PRF1: c.1034C>T p.Pro345Leu

Bibliography:

Biallelic:

Yes

Monoallelic:

-

Described >1 patient:

-

Functional Studies:

-

Information from in silico tools

Predictor	Score	Label
CADD v1.5	26.5	Deleterious
PolyPhen-2	1.0	Probably damaging
PON-P2	0.883	Pathogenic
SIFT	0.003	Damaging

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	Pathogenic (no assertion criteria provided)
Clinical Evidence	UniProt	Disease
Biological Relevance	Functional residue	domain MACPF
Variant Information	dbSNP	rs28933374
Variant Information	Ensembl	variant
Population Allele Frequency	ExAC	8e-06
Population Allele Frequency	gnomAD	4e-06

Explore the biomedical information

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