E50K (p.Glu50Lys) variant of CDK7 (Cyclin-dependent kinase 7)
E50K (p.Glu50Lys) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- rs1178388461
- gnomAD 5-69250745-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 5.05
- Most common in the East Asian population (allele frequency 0.00011)
- Structural context available
- Literature evidence available