I103V (p.Ile103Val) variant of SGCA (Alpha-sarcoglycan)
I103V (p.Ile103Val) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy. 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.
I103V (p.Ile103Val) variant details
- p.Ile103Val
- rs370819630
- ClinGen CA8643746
- ClinVar RCV000277867
- ClinVar RCV000725508
- Pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.83
- AlphaMissense 0.25
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.50
- PolyPhen-2 0.99
- ClinVar: Pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Likely pathogenic (in LGMDR3)
- UniProt: Likely pathogenic (in LGMDR3)
- Population evidence available
- Structural context available