Y12C (p.Tyr12Cys) variant of CDK7 (Cyclin-dependent kinase 7)
Y12C (p.Tyr12Cys) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- gnomAD 5-69235010-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available