G91S (p.Gly91Ser) variant of SGCA (Alpha-sarcoglycan)
G91S (p.Gly91Ser) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-gir. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G91S (p.Gly91Ser) variant details
- p.Gly91Ser
- rs890921874
- ClinGen CA400177785
- ClinVar RCV002629406
- ClinVar RCV005433332
- Pathogenic/Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-gir
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.95
- AlphaMissense 0.73
- MetaLR 0.98
- MetaSVM 1.04
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy; Autosomal re)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available