R78H (p.Arg78His) variant of ABL2 (Tyrosine-protein kinase ABL2)
R78H (p.Arg78His) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
R78H (p.Arg78His) variant details
- p.Arg78His
- rs55655202
- UniProt VAR 055411
- 1000Genomes rs55655202
- ExAC rs55655202
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.11
- CADD 24.00
- PolyPhen-2 0.18
- SIFT 0.00
- Population evidence available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)