R17L (p.Arg17Leu) variant of ASXL3 (Q9C0F0)
R17L (p.Arg17Leu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- Ensembl rs1568260351
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.04
- MetaSVM -1.05
- CADD 23.90
- Population evidence available
- Structural context available