L45F (p.Leu45Phe) variant of CDK7 (Cyclin-dependent kinase 7)
L45F (p.Leu45Phe) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- gnomAD 5-69252424-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.31
- CADD 26.50
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available