A309D (p.Ala309Asp) variant of PAH (Phenylalanine-4-hydroxylase)
A309D (p.Ala309Asp) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
A309D (p.Ala309Asp) variant details
- p.Ala309Asp
- rs62642935
- ClinGen CA229853
- ClinVar RCV000089160
- ClinVar RCV000668228
- Pathogenic
- not provided; Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 0.92
- CADD 29.40
- PolyPhen-2 0.99
- SIFT 0.15
- ClinVar: Pathogenic (not provided; Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: The Genetic Landscape and Epidemiology of Phenylketonuria. (PMID 32668217)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)