A259T (p.Ala259Thr) variant of PAH (Phenylalanine-4-hydroxylase)
A259T (p.Ala259Thr) 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.
A259T (p.Ala259Thr) variant details
- p.Ala259Thr
- rs62642932
- ClinGen CA229755
- ClinVar RCV000089088
- ClinVar RCV000411173
- Pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.92
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to… (PMID 9450897)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)