L45I (p.Leu45Ile) variant of CDK7 (Cyclin-dependent kinase 7)
L45I (p.Leu45Ile) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L45I (p.Leu45Ile) variant details
- p.Leu45Ile
- gnomAD 5-69252424-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.06
- CADD 21.70
- PolyPhen-2 0.04
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available