E21* (p.Glu21Ter) variant of CAV3 (Caveolin-3)
E21* (p.Glu21Ter) in CAV3 (Caveolin-3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E21* (p.Glu21Ter) variant details
- p.Glu21Ter
- cosmic curated COSV10066
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 46.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available