L45R (p.Leu45Arg) variant of CDK7 (Cyclin-dependent kinase 7)
L45R (p.Leu45Arg) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L45R (p.Leu45Arg) variant details
- p.Leu45Arg
- gnomAD 5-69252425-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.32
- CADD 24.30
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available