L41F (p.Leu41Phe) variant of PAH (Phenylalanine-4-hydroxylase)
L41F (p.Leu41Phe) 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 0.77 / 1. The record also includes published literature and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- rs62642928
- ClinGen CA229401
- ClinVar RCV000088803
- ClinVar RCV000697659
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.65
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.28
- 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)