L15P (p.Leu15Pro) variant of PAH (Phenylalanine-4-hydroxylase)
L15P (p.Leu15Pro) 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 0.50 / 1. The record also includes population frequency data and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- TOPMed rs1319374413
- gnomAD rs1319374413
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.56
- AlphaMissense 0.07
- MetaLR 0.86
- MetaSVM 0.87
- CADD 17.30
- PolyPhen-2 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available