K7R (p.Lys7Arg) variant of ASXL1 (Polycomb group protein ASXL1)
K7R (p.Lys7Arg) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- gnomAD 20-32358795-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.03
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available