L18I (p.Leu18Ile) variant of CDK7 (Cyclin-dependent kinase 7)
L18I (p.Leu18Ile) 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.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- gnomAD 5-69235027-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- CADD 24.20
- PolyPhen-2 0.72
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available