M28I (p.Met28Ile) variant of ASXL3 (Q9C0F0)
M28I (p.Met28Ile) 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.
M28I (p.Met28Ile) variant details
- p.Met28Ile
- gnomAD 18-33607623-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.08
- MetaSVM -1.01
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available