V60A (p.Val60Ala) variant of PAH (Phenylalanine-4-hydroxylase)
V60A (p.Val60Ala) in PAH (Phenylalanine-4-hydroxylase) is a missense change. 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.
V60A (p.Val60Ala) variant details
- p.Val60Ala
- gnomAD rs1398246301
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.69
- MetaLR 0.96
- MetaSVM 1.01
- CADD 24.00
- PolyPhen-2 0.50
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available