E376* (p.Glu376Ter) variant of CACNA2D2 (Q9NY47)
E376* (p.Glu376Ter) in CACNA2D2 (Q9NY47) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E376* (p.Glu376Ter) variant details
- p.Glu376Ter
- rs2471029525
- ClinGen CA352935431
- ClinVar RCV002471683
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available