K6R (p.Lys6Arg) variant of ASXL1 (Polycomb group protein ASXL1)
K6R (p.Lys6Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- gnomAD 20-32358792-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.05
- CADD 23.60
- PolyPhen-2 0.72
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available