K2E (p.Lys2Glu) variant of ASXL3 (Q9C0F0)
K2E (p.Lys2Glu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K2E (p.Lys2Glu) variant details
- p.Lys2Glu
- gnomAD 18-33578635-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.96
- CADD 25.40
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available