E74* (p.Glu74Ter) variant of CASQ2 (Calsequestrin-2)
E74* (p.Glu74Ter) in CASQ2 (Calsequestrin-2) 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 and structural context.
E74* (p.Glu74Ter) variant details
- p.Glu74Ter
- 1000Genomes rs527426700
- ExAC rs527426700
- gnomAD rs527426700
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.88
- CADD 45.00
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available