R5W (p.Arg5Trp) variant of ASXL3 (Q9C0F0)
R5W (p.Arg5Trp) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- gnomAD 18-33578644-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.09
- ESM-1b 0.89
- AlphaMissense 0.99
- CADD 24.80
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available