L54F (p.Leu54Phe) variant of PAH (Phenylalanine-4-hydroxylase)
L54F (p.Leu54Phe) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- ESP rs143358918
- ExAC rs143358918
- TOPMed rs143358918
- gnomAD rs143358918
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.71
- MetaLR 0.93
- MetaSVM 0.81
- CADD 18.40
- PolyPhen-2 0.19
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available