T29K (p.Thr29Lys) variant of ASXL3 (Q9C0F0)
T29K (p.Thr29Lys) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T29K (p.Thr29Lys) variant details
- p.Thr29Lys
- gnomAD 18-33607625-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.26
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.13
- MetaSVM -1.01
- CADD 24.90
- Population evidence available
- Structural context available
- Literature evidence available