R18H (p.Arg18His) variant of ASXL1 (Polycomb group protein ASXL1)
R18H (p.Arg18His) 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.
R18H (p.Arg18His) variant details
- p.Arg18His
- gnomAD 20-32358828-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.08
- CADD 25.80
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available