I28V (p.Ile28Val) variant of H6PD (O95479)
I28V (p.Ile28Val) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- gnomAD 1-9245016-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.14
- MetaLR 0.15
- MetaSVM -0.95
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available