K9E (p.Lys9Glu) variant of ASXL1 (Polycomb group protein ASXL1)
K9E (p.Lys9Glu) 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 and structural context.
K9E (p.Lys9Glu) variant details
- p.Lys9Glu
- gnomAD rs1292736851
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.12
- CADD 23.80
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 4.4e-05)
- Structural context available