R11S (p.Arg11Ser) variant of CDK7 (Cyclin-dependent kinase 7)
R11S (p.Arg11Ser) 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.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- TOPMed rs1748852140
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.23
- CADD 28.10
- PolyPhen-2 0.58
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available