R10L (p.Arg10Leu) variant of ASXL3 (Q9C0F0)
R10L (p.Arg10Leu) in ASXL3 (Q9C0F0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- ExAC rs773417248
- TOPMed rs773417248
- gnomAD rs773417248
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.96
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available