E15V (p.Glu15Val) variant of ASXL1 (Polycomb group protein ASXL1)
E15V (p.Glu15Val) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E15V (p.Glu15Val) variant details
- p.Glu15Val
- gnomAD 20-32358819-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.17
- CADD 23.80
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available