V58I (p.Val58Ile) variant of SGCA (Alpha-sarcoglycan)
V58I (p.Val58Ile) in SGCA (Alpha-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 0.20 / 1. The record also includes population frequency data and structural context.
V58I (p.Val58Ile) variant details
- p.Val58Ile
- 1000Genomes rs141953249
- ESP rs141953249
- ExAC rs141953249
- TOPMed rs141953249
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.23
- CADD 2.85
- PolyPhen-2 0.01
- SIFT 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available