M28V (p.Met28Val) variant of ASXL3 (Q9C0F0)
M28V (p.Met28Val) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M28V (p.Met28Val) variant details
- p.Met28Val
- gnomAD 18-33607621-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.63
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available