Q32R (p.Gln32Arg) variant of ASXL3 (Q9C0F0)
Q32R (p.Gln32Arg) 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.
Q32R (p.Gln32Arg) variant details
- p.Gln32Arg
- gnomAD 18-33607634-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.10
- MetaSVM -0.93
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available