R93L (p.Arg93Leu) variant of JAK1 (Tyrosine-protein kinase JAK1)
R93L (p.Arg93Leu) in JAK1 (Tyrosine-protein kinase JAK1) 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 0.27 / 1. The record also includes structural context.
R93L (p.Arg93Leu) variant details
- p.Arg93Leu
- rs1644728239
- ClinGen CA340678932
- ClinVar RCV002020836
- Ensembl rs1644728239
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- MetaLR 0.05
- MetaSVM -1.05
- PolyPhen-2 0.06
- SIFT 0.00
- MutPred 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available