C48* (p.Cys48Ter) variant of CHEK1 (O14757)
C48* (p.Cys48Ter) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
C48* (p.Cys48Ter) variant details
- p.Cys48Ter
- gnomAD rs1367390698
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 16.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available