E62K (p.Glu62Lys) variant of WAS (P42768)
E62K (p.Glu62Lys) 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.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- gnomAD X-48684334-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.37
- CADD 17.40
- PolyPhen-2 0.36
- SIFT 0.45
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available