Y635* (p.Tyr635Ter) variant of CACNA2D2 (Q9NY47)
Y635* (p.Tyr635Ter) in CACNA2D2 (Q9NY47) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y635* (p.Tyr635Ter) variant details
- p.Tyr635Ter
- rs1322090113
- ClinGen CA352923401
- ClinVar RCV006563022
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available