PRF1: c.1005C>A p.Ser335Arg

Bibliography:

Biallelic:

-

Monoallelic:

Yes

Described >1 patient:

-

Functional Studies:

-

Information from in silico tools

Predictor	Score	Label
CADD v1.5	0.003	Neutral
PolyPhen-2	0.005	Benign
PON-P2	nan
SIFT	0.461	Tolerated

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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	rs758844674
Variant Information	Ensembl	variant
Population Allele Frequency	ExAC	8e-06
Population Allele Frequency	gnomAD	1.2e-05

Explore the biomedical information

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