E20R (p.Glu20Arg) variant of CDK7 (Cyclin-dependent kinase 7)
E20R (p.Glu20Arg) in CDK7 (Cyclin-dependent kinase 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E20R (p.Glu20Arg) variant details
- p.Glu20Arg
- rs1425977847
- gnomAD 5-69235025-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 27.30
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available