S49L (p.Ser49Leu) variant of CDK7 (Cyclin-dependent kinase 7)
S49L (p.Ser49Leu) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S49L (p.Ser49Leu) variant details
- p.Ser49Leu
- gnomAD 5-69252437-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.19
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available