G103R (p.Gly103Arg) variant of ABL2 (Tyrosine-protein kinase ABL2)
G103R (p.Gly103Arg) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
G103R (p.Gly103Arg) variant details
- p.Gly103Arg
- rs187540054
- ClinGen CA1265170
- ClinVar RCV004354640
- 1000Genomes rs187540054
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.33
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available