A39D (p.Ala39Asp) variant of CDK7 (Cyclin-dependent kinase 7)
A39D (p.Ala39Asp) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- gnomAD 5-69235443-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.88
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available