K9T (p.Lys9Thr) variant of ASXL1 (Polycomb group protein ASXL1)
K9T (p.Lys9Thr) 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.
K9T (p.Lys9Thr) variant details
- p.Lys9Thr
- gnomAD 20-32358801-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.10
- CADD 25.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available
- Literature evidence available