S49P (p.Ser49Pro) variant of CDK7 (Cyclin-dependent kinase 7)
S49P (p.Ser49Pro) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- gnomAD 5-69252436-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.20
- CADD 23.20
- PolyPhen-2 0.20
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available