D16Y (p.Asp16Tyr) variant of CDK7 (Cyclin-dependent kinase 7)
D16Y (p.Asp16Tyr) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
D16Y (p.Asp16Tyr) variant details
- p.Asp16Tyr
- ESP rs368259373
- ExAC rs368259373
- TOPMed rs368259373
- gnomAD rs368259373
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.27
- CADD 32.00
- PolyPhen-2 0.82
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available