K38* (p.Lys38Ter) variant of CHEK1 (O14757)
K38* (p.Lys38Ter) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K38* (p.Lys38Ter) variant details
- p.Lys38Ter
- gnomAD 11-125627650-GTGA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 18.90
- Population evidence available
- Structural context available
- Literature evidence available