A49V (p.Ala49Val) variant of PAH (Phenylalanine-4-hydroxylase)
A49V (p.Ala49Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs1878253465
- ClinGen CA386302327
- ClinVar RCV001995430
- Ensembl rs1878253465
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.35
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 0.04
- SIFT 0.40
- EVE 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)