E37Q (p.Glu37Gln) variant of WAS (P42768)
E37Q (p.Glu37Gln) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- gnomAD X-48683962-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.38
- CADD 22.30
- PolyPhen-2 0.17
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available