G16E (p.Gly16Glu) variant of CDK12 (Cyclin-dependent kinase 12)
G16E (p.Gly16Glu) 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 0.40 / 1. The record also includes population frequency data and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- ExAC rs760334479
- TOPMed rs760334479
- gnomAD rs760334479
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.19
- CADD 27.50
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available