G13W (p.Gly13Trp) variant of ABL2 (Tyrosine-protein kinase ABL2)
G13W (p.Gly13Trp) 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 0.58 / 1. The record also includes population frequency data.
G13W (p.Gly13Trp) variant details
- p.Gly13Trp
- rs758479290
- ClinGen CA33898907
- ClinVar RCV004330766
- ExAC rs758479290
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.45
- CADD 26.80
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available