C57* (p.Cys57Ter) variant of NOTCH1 (P46531)
C57* (p.Cys57Ter) in NOTCH1 (P46531) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
C57* (p.Cys57Ter) variant details
- p.Cys57Ter
- Ensembl rs2133379767
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available