R11L (p.Arg11Leu) variant of CDK7 (Cyclin-dependent kinase 7)
R11L (p.Arg11Leu) in CDK7 (Cyclin-dependent kinase 7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- 1000Genomes rs555422765
- ExAC rs555422765
- TOPMed rs555422765
- gnomAD rs555422765
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.26
- CADD 25.80
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available