G93C (p.Gly93Cys) variant of WAS (P42768)
G93C (p.Gly93Cys) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G93C (p.Gly93Cys) variant details
- p.Gly93Cys
- gnomAD X-48685550-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.82
- CADD 26.60
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available