A65T (p.Ala65Thr) variant of H6PD (O95479)
A65T (p.Ala65Thr) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- gnomAD 1-9245127-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.31
- MetaLR 0.77
- MetaSVM 0.20
- CADD 19.10
- PolyPhen-2 0.08
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available