A47V (p.Ala47Val) variant of PAH (Phenylalanine-4-hydroxylase)
A47V (p.Ala47Val) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- rs118203925
- ClinGen CA114370
- ClinVar RCV000000662
- ClinVar RCV000088839
- Pathogenic
- in PAH deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.80
- AlphaMissense 0.22
- MetaLR 0.94
- MetaSVM 1.11
- CADD 22.80
- PolyPhen-2 0.12
- EBI: Pathogenic (in PAH deficiency)
- UniProt: Pathogenic (in PAH deficiency)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. (PMID 8088845)
- Cited in: Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild… (PMID 10200057)