A12V (p.Ala12Val) variant of H6PD (O95479)
A12V (p.Ala12Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- ExAC rs766927941
- TOPMed rs766927941
- gnomAD rs766927941
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.34
- MetaLR 0.87
- MetaSVM 0.34
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available