G28C (p.Gly28Cys) variant of SGCD (Delta-sarcoglycan)
G28C (p.Gly28Cys) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes population frequency data and structural context.
G28C (p.Gly28Cys) variant details
- p.Gly28Cys
- ExAC rs773399590
- TOPMed rs773399590
- gnomAD rs773399590
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available