A345S (p.Ala345Ser) variant of PAH (Phenylalanine-4-hydroxylase)
A345S (p.Ala345Ser) 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.
A345S (p.Ala345Ser) variant details
- p.Ala345Ser
- rs62516062
- ClinGen CA286497
- ClinVar RCV000088715
- ClinVar RCV000586982
- Pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.97
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (Phenylketonuria)
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: The Genetic Landscape and Epidemiology of Phenylketonuria. (PMID 32668217)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)