R18C (p.Arg18Cys) variant of ASXL1 (Polycomb group protein ASXL1)
R18C (p.Arg18Cys) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- gnomAD 20-32358827-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.14
- CADD 27.00
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available