UNC13D: c.3067C>T p.Arg1023Cys


Bibliography:

Biallelic:

-

Monoallelic:

Yes

Described >1 patient:

Yes

Functional Studies:

Yes

Information from in silico tools

Predictor Score Label
CADD v1.5 8.439 Neutral
PolyPhen-2 0.001 Benign
PON-P2 0.045 Neutral
SIFT 0.201 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 -
UniProt -
Biological Relevance Functional residue -
Variant Information dbSNP rs140599939
Ensembl variant
Population Allele Frequency ExAC 0.000288
gnomAD 0.000119

Explore the biomedical information

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