I29T (p.Ile29Thr) variant of H6PD (O95479)
I29T (p.Ile29Thr) 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, published literature, and structural context.
I29T (p.Ile29Thr) variant details
- p.Ile29Thr
- gnomAD 1-9245020-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.29
- MetaLR 0.22
- MetaSVM -0.72
- CADD 23.20
- PolyPhen-2 0.53
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available