S40L (p.Ser40Leu) variant of PAH (Phenylalanine-4-hydroxylase)
S40L (p.Ser40Leu) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAH deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- rs62642938
- ClinGen CA229393
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61016
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 0.25
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.33
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations. (PMID 8889590)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)