Y77H (p.Tyr77His) variant of PAH (Phenylalanine-4-hydroxylase)
Y77H (p.Tyr77His) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y77H (p.Tyr77His) variant details
- p.Tyr77His
- rs1877431851
- ClinGen CA386304171
- ClinVar RCV003316903
- TOPMed rs1877431851
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.77
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.69
- SIFT 0.07
- EVE 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)