K2N (p.Lys2Asn) variant of ASXL3 (Q9C0F0)
K2N (p.Lys2Asn) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K2N (p.Lys2Asn) variant details
- p.Lys2Asn
- gnomAD 18-33578637-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 25.50
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available