A259V (p.Ala259Val) variant of PAH (Phenylalanine-4-hydroxylase)
A259V (p.Ala259Val) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
A259V (p.Ala259Val) variant details
- p.Ala259Val
- rs118203921
- ClinGen CA229756
- ClinVar RCV000000633
- ClinVar RCV000089089
- Pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.95
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.92
- CADD 29.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human… (PMID 1301187)
- Cited in: Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria. (PMID 2035532)