K2I (p.Lys2Ile) variant of ASXL3 (Q9C0F0)
K2I (p.Lys2Ile) in ASXL3 (Q9C0F0) 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.
K2I (p.Lys2Ile) variant details
- p.Lys2Ile
- gnomAD 18-33578636-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 29.20
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available