A4V (p.Ala4Val) variant of PAH (Phenylalanine-4-hydroxylase)
A4V (p.Ala4Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- ExAC rs765022724
- TOPMed rs765022724
- gnomAD rs765022724
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.60
- CADD 3.06
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available