A9E (p.Ala9Glu) variant of CDK7 (Cyclin-dependent kinase 7)
A9E (p.Ala9Glu) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD 5-69235001-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.16
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available