D16H (p.Asp16His) variant of CDK7 (Cyclin-dependent kinase 7)
D16H (p.Asp16His) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D16H (p.Asp16His) variant details
- p.Asp16His
- gnomAD 5-69235021-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.21
- CADD 25.90
- PolyPhen-2 0.71
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available