E33* (p.Glu33Ter) variant of CALCB (P10092)
E33* (p.Glu33Ter) in CALCB (P10092) 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 and structural context.
E33* (p.Glu33Ter) variant details
- p.Glu33Ter
- TOPMed rs1043867993
- gnomAD rs1043867993
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.695
- CADD 41.00
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available