R5G (p.Arg5Gly) variant of ASXL3 (Q9C0F0)
R5G (p.Arg5Gly) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- gnomAD 18-33578644-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.92
- CADD 25.20
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available