S18C (p.Ser18Cys) variant of CDK12 (Cyclin-dependent kinase 12)
S18C (p.Ser18Cys) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- ExAC rs776079520
- TOPMed rs776079520
- gnomAD rs776079520
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.16
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)