L62P (p.Leu62Pro) variant of PAH (Phenylalanine-4-hydroxylase)
L62P (p.Leu62Pro) 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 0.92 / 1. The record also includes published literature and structural context.
L62P (p.Leu62Pro) variant details
- p.Leu62Pro
- rs1877437661
- ClinGen CA16020739
- ClinVar RCV001093519
- ClinVar RCV005236597
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene. (PMID 22513348)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)