V20C (p.Val20Cys) variant of ASXL1 (Polycomb group protein ASXL1)
V20C (p.Val20Cys) in ASXL1 (Polycomb group protein ASXL1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V20C (p.Val20Cys) variant details
- p.Val20Cys
- rs756234325
- gnomAD 20-32359760-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available