I26V (p.Ile26Val) variant of SGCD (Delta-sarcoglycan)
I26V (p.Ile26Val) in SGCD (Delta-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- ESP rs373824540
- ExAC rs373824540
- TOPMed rs373824540
- gnomAD rs373824540
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- ESM-1b 1.00
- AlphaMissense 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available