A345T (p.Ala345Thr) variant of PAH (Phenylalanine-4-hydroxylase)
A345T (p.Ala345Thr) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
A345T (p.Ala345Thr) variant details
- p.Ala345Thr
- rs62516062
- ClinGen CA229291
- ClinVar RCV000088714
- ClinVar RCV000490440
- Pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.98
- MetaLR 1.00
- MetaSVM 0.92
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human… (PMID 1301187)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)