R11C (p.Arg11Cys) variant of CDK7 (Cyclin-dependent kinase 7)
R11C (p.Arg11Cys) in CDK7 (Cyclin-dependent kinase 7) 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.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- gnomAD 5-69235006-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.23
- CADD 32.00
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available