Y27* (p.Tyr27Ter) variant of SGCD (Delta-sarcoglycan)
Y27* (p.Tyr27Ter) in SGCD (Delta-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y27* (p.Tyr27Ter) variant details
- p.Tyr27Ter
- gnomAD 5-156344569-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available