E67K (p.Glu67Lys) variant of WAS (P42768)
E67K (p.Glu67Lys) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E67K (p.Glu67Lys) variant details
- p.Glu67Lys
- gnomAD rs1557006329
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.40
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 0.68
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available