S30C (p.Ser30Cys) variant of CDK12 (Cyclin-dependent kinase 12)
S30C (p.Ser30Cys) 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 0.38 / 1. The record also includes population frequency data and structural context.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- TOPMed rs1021399334
- gnomAD rs1021399334
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.16
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available