L41P (p.Leu41Pro) variant of PAH (Phenylalanine-4-hydroxylase)
L41P (p.Leu41Pro) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as likely 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.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- rs62642916
- ClinGen CA229408
- ClinVar RCV000088809
- ClinVar RCV001093507
- Likely pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.89
- SIFT 0.20
- EVE 0.14
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations. (PMID 10679941)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)