K7T (p.Lys7Thr) variant of ASXL3 (Q9C0F0)
K7T (p.Lys7Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K7T (p.Lys7Thr) variant details
- p.Lys7Thr
- gnomAD 18-33578651-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.95
- MetaLR 0.09
- MetaSVM -1.07
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available