Y22* (p.Tyr22Ter) variant of SGCD (Delta-sarcoglycan)
Y22* (p.Tyr22Ter) in SGCD (Delta-sarcoglycan) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes population frequency data and structural context.
Y22* (p.Tyr22Ter) variant details
- p.Tyr22Ter
- rs397517923
- ClinGen CA362007631
- ClinVar RCV000669132
- 1000Genomes rs397517923
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available