A92A (p.Ala92Ala) variant of WAS (P42768)
A92A (p.Ala92Ala) in WAS (P42768) is a protein-truncating 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.
A92A (p.Ala92Ala) variant details
- p.Ala92Ala
- gnomAD X-48685549-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available