A104V (p.Ala104Val) variant of PAH (Phenylalanine-4-hydroxylase)
A104V (p.Ala104Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
A104V (p.Ala104Val) variant details
- p.Ala104Val
- rs62642929
- ClinGen CA386304006
- ClinVar RCV002509871
- Likely pathogenic
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.82
- MetaLR 0.84
- MetaSVM 0.63
- PolyPhen-2 0.00
- SIFT 0.65
- EVE 0.07
- ClinVar: Likely pathogenic (Phenylketonuria)
- EBI: Likely pathogenic (in PAH deficiency)
- UniProt: Likely pathogenic (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)