V47M (p.Val47Met) variant of SGCD (Delta-sarcoglycan)
V47M (p.Val47Met) in SGCD (Delta-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V47M (p.Val47Met) variant details
- p.Val47Met
- 1000Genomes rs556208970
- ExAC rs556208970
- TOPMed rs556208970
- gnomAD rs556208970
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- ESM-1b 1.00
- AlphaMissense 0.34
- Population evidence available
- Structural context available