R37C (p.Arg37Cys) variant of CDK12 (Cyclin-dependent kinase 12)
R37C (p.Arg37Cys) 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 0.56 / 1. The record also includes population frequency data and structural context.
R37C (p.Arg37Cys) variant details
- p.Arg37Cys
- TOPMed rs1406991934
- gnomAD rs1406991934
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.36
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available