C33S (p.Cys33Ser) variant of SGCD (Delta-sarcoglycan)
C33S (p.Cys33Ser) 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 0.96 / 1. The record also includes population frequency data and structural context.
C33S (p.Cys33Ser) variant details
- p.Cys33Ser
- ExAC rs757994622
- gnomAD rs757994622
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- ESM-1b 1.00
- AlphaMissense 0.91
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available