L20I (p.Leu20Ile) variant of ASXL3 (Q9C0F0)
L20I (p.Leu20Ile) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L20I (p.Leu20Ile) variant details
- p.Leu20Ile
- gnomAD 18-33607597-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.76
- MetaLR 0.17
- MetaSVM -1.00
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available