A342T (p.Ala342Thr) variant of PAH (Phenylalanine-4-hydroxylase)
A342T (p.Ala342Thr) 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 0.94 / 1. The record also includes published literature and structural context.
A342T (p.Ala342Thr) variant details
- p.Ala342Thr
- rs62507282
- ClinGen CA229276
- ClinVar RCV000088704
- ClinVar RCV001386152
- Pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 0.88
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Structural context available
- Cited in: A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general… (PMID 9634518)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)