Q32H (p.Gln32His) variant of ASXL3 (Q9C0F0)
Q32H (p.Gln32His) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q32H (p.Gln32His) variant details
- p.Gln32His
- gnomAD 18-33607635-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.94
- MetaLR 0.08
- MetaSVM -1.05
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available