Y24F (p.Tyr24Phe) variant of PAH (Phenylalanine-4-hydroxylase)
Y24F (p.Tyr24Phe) 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 0.70 / 1. The record also includes population frequency data and structural context.
Y24F (p.Tyr24Phe) variant details
- p.Tyr24Phe
- 1000Genomes rs539994406
- ExAC rs539994406
- TOPMed rs539994406
- gnomAD rs539994406
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.67
- MetaLR 0.93
- MetaSVM 0.98
- CADD 24.10
- PolyPhen-2 0.86
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available