R18L (p.Arg18Leu) variant of ASXL1 (Polycomb group protein ASXL1)
R18L (p.Arg18Leu) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- rs2122755072
- ClinGen CA408575467
- ClinVar RCV001787649
- Ensembl rs2122755072
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- AlphaMissense 0.84
- MetaLR 0.05
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available