K2R (p.Lys2Arg) variant of ASXL3 (Q9C0F0)
K2R (p.Lys2Arg) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K2R (p.Lys2Arg) variant details
- p.Lys2Arg
- gnomAD 18-33578636-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 24.00
- PolyPhen-2 0.81
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available