A47S (p.Ala47Ser) variant of PAH (Phenylalanine-4-hydroxylase)
A47S (p.Ala47Ser) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A47S (p.Ala47Ser) variant details
- p.Ala47Ser
- TOPMed rs1206656229
- gnomAD rs1206656229
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.58
- MetaLR 0.94
- MetaSVM 1.03
- CADD 20.80
- PolyPhen-2 0.18
- SIFT 0.19
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available