V5L (p.Val5Leu) variant of CDK7 (Cyclin-dependent kinase 7)
V5L (p.Val5Leu) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- gnomAD 5-69234988-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.09
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available