Q80K (p.Gln80Lys) variant of WAS (P42768)
Q80K (p.Gln80Lys) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q80K (p.Gln80Lys) variant details
- p.Gln80Lys
- gnomAD X-48684388-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.43
- CADD 15.80
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available