M28T (p.Met28Thr) variant of ASXL3 (Q9C0F0)
M28T (p.Met28Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M28T (p.Met28Thr) variant details
- p.Met28Thr
- gnomAD 18-33607622-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.08
- MetaSVM -0.91
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available