K2Q (p.Lys2Gln) variant of ASXL1 (Polycomb group protein ASXL1)
K2Q (p.Lys2Gln) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K2Q (p.Lys2Gln) variant details
- p.Lys2Gln
- gnomAD 20-32358779-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.10
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available