R11H (p.Arg11His) variant of ASXL1 (Polycomb group protein ASXL1)
R11H (p.Arg11His) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- gnomAD 20-32358807-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.13
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Literature evidence available