G12S (p.Gly12Ser) variant of PAH (Phenylalanine-4-hydroxylase)
G12S (p.Gly12Ser) in PAH (Phenylalanine-4-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- TOPMed rs1433712720
- gnomAD rs1433712720
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.60
- CADD 9.54
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available