L45V (p.Leu45Val) variant of CDK7 (Cyclin-dependent kinase 7)
L45V (p.Leu45Val) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- ExAC rs758857281
- TOPMed rs758857281
- gnomAD rs758857281
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.05
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.49
- Most common in the East Asian population (allele frequency 0.00021)
- Structural context available