D59G (p.Asp59Gly) variant of PAH (Phenylalanine-4-hydroxylase)
D59G (p.Asp59Gly) 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 0.64 / 1. The record also includes published literature and structural context.
D59G (p.Asp59Gly) variant details
- p.Asp59Gly
- rs199475672
- ClinGen CA229468
- ClinVar RCV000088858
- ClinVar RCV000758114
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- AlphaMissense 0.22
- MetaLR 0.93
- MetaSVM 0.89
- PolyPhen-2 0.01
- SIFT 0.07
- EVE 0.30
- 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)