C11R (p.Cys11Arg) variant of ABL1 (Tyrosine-protein kinase ABL1)
C11R (p.Cys11Arg) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
C11R (p.Cys11Arg) variant details
- p.Cys11Arg
- gnomAD 9-130835477-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.58
- MetaLR 0.36
- MetaSVM -0.30
- CADD 22.10
- PolyPhen-2 0.98
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available