A309V (p.Ala309Val) variant of PAH (Phenylalanine-4-hydroxylase)
A309V (p.Ala309Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A309V (p.Ala309Val) variant details
- p.Ala309Val
- rs62642935
- ClinGen CA220592
- cosmic curated COSV10018
- ClinVar RCV000078538
- Pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.92
- MetaLR 0.99
- MetaSVM 0.99
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.16
- ClinVar: Pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. (PMID 10679941)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)