S18F (p.Ser18Phe) variant of CDK12 (Cyclin-dependent kinase 12)
S18F (p.Ser18Phe) 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 0.41 / 1. The record also includes population frequency data.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- ExAC rs776079520
- TOPMed rs776079520
- gnomAD rs776079520
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.22
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.1e-05)