Q19H (p.Gln19His) variant of WAS (P42768)
Q19H (p.Gln19His) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q19H (p.Gln19His) variant details
- p.Gln19His
- gnomAD X-48683910-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.38
- CADD 21.40
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available