A12T (p.Ala12Thr) variant of H6PD (O95479)
A12T (p.Ala12Thr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- ExAC rs761439328
- gnomAD rs761439328
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.31
- MetaLR 0.86
- MetaSVM 0.36
- CADD 15.30
- PolyPhen-2 0.03
- SIFT 0.47
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available