G11W (p.Gly11Trp) variant of WAS (P42768)
G11W (p.Gly11Trp) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G11W (p.Gly11Trp) variant details
- p.Gly11Trp
- gnomAD X-48683884-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.49
- CADD 23.40
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available