V58I (p.Val58Ile) variant of SGCD (Delta-sarcoglycan)
V58I (p.Val58Ile) 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 0.72 / 1. The record also includes population frequency data and structural context.
V58I (p.Val58Ile) variant details
- p.Val58Ile
- TOPMed rs1274415049
- gnomAD rs1274415049
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- ESM-1b 1.00
- AlphaMissense 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available