K8T (p.Lys8Thr) variant of ASXL3 (Q9C0F0)
K8T (p.Lys8Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K8T (p.Lys8Thr) variant details
- p.Lys8Thr
- gnomAD 18-33578654-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.10
- ESM-1b 0.36
- AlphaMissense 0.95
- MetaLR 0.15
- MetaSVM -0.97
- CADD 25.40
- Population evidence available
- Structural context available
- Literature evidence available