K9M (p.Lys9Met) variant of ASXL1 (Polycomb group protein ASXL1)
K9M (p.Lys9Met) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K9M (p.Lys9Met) variant details
- p.Lys9Met
- gnomAD 20-32358801-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.14
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available