E5Q (p.Glu5Gln) variant of CDK12 (Cyclin-dependent kinase 12)
E5Q (p.Glu5Gln) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E5Q (p.Glu5Gln) variant details
- p.Glu5Gln
- gnomAD 17-39462084-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.23
- CADD 27.30
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available