I43I (p.Ile43Ile) variant of CDK7 (Cyclin-dependent kinase 7)
I43I (p.Ile43Ile) in CDK7 (Cyclin-dependent kinase 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I43I (p.Ile43Ile) variant details
- p.Ile43Ile
- gnomAD 5-69252420-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 13.70
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available