R48G (p.Arg48Gly) variant of CDK7 (Cyclin-dependent kinase 7)
R48G (p.Arg48Gly) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- gnomAD 5-69252433-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.42
- CADD 26.80
- PolyPhen-2 0.78
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available