E13K (p.Glu13Lys) variant of CDK7 (Cyclin-dependent kinase 7)
E13K (p.Glu13Lys) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- gnomAD 5-69235012-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.22
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available