E13V (p.Glu13Val) variant of CDK7 (Cyclin-dependent kinase 7)
E13V (p.Glu13Val) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E13V (p.Glu13Val) variant details
- p.Glu13Val
- gnomAD 5-69235013-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.46
- CADD 26.20
- PolyPhen-2 0.79
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available