A259G (p.Ala259Gly) variant of PAH (Phenylalanine-4-hydroxylase)
A259G (p.Ala259Gly) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Phenylketonuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
A259G (p.Ala259Gly) variant details
- p.Ala259Gly
- rs118203921
- ClinGen CA386295500
- ClinVar RCV003494061
- Uncertain significance
- Phenylketonuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (Phenylketonuria)
- EBI: Variant of uncertain significance (in PAH deficiency)
- UniProt: Uncertain significance (in PAH deficiency)
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)