S25W (p.Ser25Trp) variant of CDK12 (Cyclin-dependent kinase 12)
S25W (p.Ser25Trp) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S25W (p.Ser25Trp) variant details
- p.Ser25Trp
- ExAC rs763482961
- TOPMed rs763482961
- gnomAD rs763482961
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.27
- CADD 28.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available