R5M (p.Arg5Met) variant of ASXL3 (Q9C0F0)
R5M (p.Arg5Met) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R5M (p.Arg5Met) variant details
- p.Arg5Met
- gnomAD 18-33578645-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available