G18E (p.Gly18Glu) variant of SGCD (Delta-sarcoglycan)
G18E (p.Gly18Glu) 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 0.27 / 1. The record also includes population frequency data and structural context.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- ExAC rs778664534
- gnomAD rs778664534
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available