G60V (p.Gly60Val) variant of WAS (P42768)
G60V (p.Gly60Val) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- gnomAD X-48684329-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.73
- CADD 23.70
- PolyPhen-2 0.69
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available