E15K (p.Glu15Lys) variant of ASXL1 (Polycomb group protein ASXL1)
E15K (p.Glu15Lys) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E15K (p.Glu15Lys) variant details
- p.Glu15Lys
- TOPMed rs1464069229
- gnomAD rs1464069229
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.12
- CADD 27.10
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available