T22S (p.Thr22Ser) variant of PAH (Phenylalanine-4-hydroxylase)
T22S (p.Thr22Ser) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T22S (p.Thr22Ser) variant details
- p.Thr22Ser
- TOPMed rs1878259731
- gnomAD rs1878259731
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.51
- MetaLR 0.86
- MetaSVM 0.26
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available