D97G (p.Asp97Gly) variant of SGCA (Alpha-sarcoglycan)
D97G (p.Asp97Gly) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
D97G (p.Asp97Gly) variant details
- p.Asp97Gly
- rs1555568396
- ClinGen CA400177882
- ClinVar RCV000664601
- UniProt VAR 010412
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.52
- MetaLR 0.93
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.41
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Structural context available
- Cited in: Mutations in the sarcoglycan genes in patients with myopathy. (PMID 9032047)
- Cited in: Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (PMID 18996010)