A132V (p.Ala132Val) variant of PAH (Phenylalanine-4-hydroxylase)
A132V (p.Ala132Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
A132V (p.Ala132Val) variant details
- p.Ala132Val
- Ensembl rs893385519
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.88
- MetaLR 0.99
- MetaSVM 1.08
- CADD 30.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available