G19E (p.Gly19Glu) variant of CDK12 (Cyclin-dependent kinase 12)
G19E (p.Gly19Glu) in CDK12 (Cyclin-dependent kinase 12) is a missense change. 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.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- TOPMed rs1293588243
- gnomAD rs1293588243
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.27
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available