STXBP2: c.568C>T p.Arg190Cys

Bibliography:

Biallelic:

-

Monoallelic:

Yes

Described >1 patient:

Yes

Functional Studies:

Yes

Information from in silico tools

Predictor	Score	Label
CADD v1.5	24.4	Deleterious
PolyPhen-2	1.0	Probably damaging
PON-P2	nan
SIFT	0.056	Tolerated

Disclaimer The information on this database is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. The authors are not responsible for neither its use nor misuse. The authors have worked with care in the development of this server, but assume no liability or responsibility for any error, weakness, incompleteness or temporariness of the resource and of the data provided.

Interpreting the variant

Learn more about the variant

Clinical Evidence	ClinVar	Uncertain significance (criteria provided, multiple submitters, no conflicts)
Clinical Evidence	UniProt	-
Biological Relevance	Functional residue	-
Variant Information	dbSNP	rs370053399
Variant Information	Ensembl	variant
Population Allele Frequency	ExAC	0.000668
Population Allele Frequency	gnomAD	0.000482

Explore the biomedical information

Disease	Protein	Gene
DECIPHER	PDB	Ensembl
HPO	Reactome	GeneCards
GeneReviews	STRING	HGNC
MalaCards	UniProt	NCBI
OMIM		OMIM
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