C5R (p.Cys5Arg) variant of ABL1 (Tyrosine-protein kinase ABL1)
C5R (p.Cys5Arg) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C5R (p.Cys5Arg) variant details
- p.Cys5Arg
- gnomAD 9-130835459-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.46
- MetaLR 0.20
- MetaSVM -0.71
- CADD 21.90
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available