K31T (p.Lys31Thr) variant of ASXL3 (Q9C0F0)
K31T (p.Lys31Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K31T (p.Lys31Thr) variant details
- p.Lys31Thr
- gnomAD 18-33607631-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.18
- MetaSVM -0.60
- CADD 25.60
- Population evidence available
- Structural context available
- Literature evidence available