D59Y (p.Asp59Tyr) variant of PAH (Phenylalanine-4-hydroxylase)
D59Y (p.Asp59Tyr) 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.
D59Y (p.Asp59Tyr) variant details
- p.Asp59Tyr
- rs199475635
- ClinGen CA229466
- ClinVar RCV000088857
- ClinVar RCV002259585
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 0.17
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.20
- SIFT 0.06
- EVE 0.23
- 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)