A17V (p.Ala17Val) variant of ASXL1 (Polycomb group protein ASXL1)
A17V (p.Ala17Val) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- gnomAD 20-32358825-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.03
- Most common in the East Asian population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available