E34G (p.Glu34Gly) variant of CDK12 (Cyclin-dependent kinase 12)
E34G (p.Glu34Gly) 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 0.48 / 1. The record also includes population frequency data and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- gnomAD rs1252828858
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.34
- CADD 29.50
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available