G54E (p.Gly54Glu) variant of CDK12 (Cyclin-dependent kinase 12)
G54E (p.Gly54Glu) 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 0.45 / 1. The record also includes population frequency data and structural context.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- TOPMed rs1473672331
- gnomAD rs1473672331
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.22
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available