V72L (p.Val72Leu) variant of WAS (P42768)
V72L (p.Val72Leu) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- gnomAD X-48684364-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.50
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available