PRF1: c.443C>T p.Ala148Val

Bibliography:

Biallelic:

Yes

Monoallelic:

-

Described >1 patient:

Yes

Functional Studies:

-

Information from in silico tools

Predictor	Score	Label
CADD v1.5	26.1	Deleterious
PolyPhen-2	1.0	Probably damaging
PON-P2	nan
SIFT	0.003	Damaging

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Interpreting the variant

Learn more about the variant

Clinical Evidence	ClinVar	-
Clinical Evidence	UniProt	-
Biological Relevance	Functional residue	domain MACPF
Variant Information	dbSNP	-
Variant Information	Ensembl	-
Population Allele Frequency	ExAC	-
Population Allele Frequency	gnomAD	-

Explore the biomedical information

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