R35C (p.Arg35Cys) variant of CDK12 (Cyclin-dependent kinase 12)
R35C (p.Arg35Cys) in CDK12 (Cyclin-dependent kinase 12) 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 0.55 / 1. The record also includes population frequency data.
R35C (p.Arg35Cys) variant details
- p.Arg35Cys
- ExAC rs750600272
- TOPMed rs750600272
- gnomAD rs750600272
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.37
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)