C16W (p.Cys16Trp) variant of H6PD (O95479)
C16W (p.Cys16Trp) in H6PD (O95479) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
C16W (p.Cys16Trp) variant details
- p.Cys16Trp
- gnomAD 1-9244982-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.16
- MetaLR 0.15
- MetaSVM -0.86
- CADD 24.30
- PolyPhen-2 0.32
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available