R44* (p.Arg44Ter) variant of CHEK1 (O14757)
R44* (p.Arg44Ter) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R44* (p.Arg44Ter) variant details
- p.Arg44Ter
- rs1940573936
- gnomAD 11-125625926-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.882
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available