I28M (p.Ile28Met) variant of H6PD (O95479)
I28M (p.Ile28Met) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I28M (p.Ile28Met) variant details
- p.Ile28Met
- gnomAD 1-9245018-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.32
- MetaLR 0.22
- MetaSVM -0.42
- CADD 8.54
- PolyPhen-2 0.58
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available