R81C (p.Arg81Cys) variant of SGCA (Alpha-sarcoglycan)
R81C (p.Arg81Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R81C (p.Arg81Cys) variant details
- p.Arg81Cys
- rs398123098
- ClinGen CA220233
- ClinVar RCV000077938
- ClinVar RCV001854369
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.93
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular… (PMID 30345904)
- Cited in: Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (PMID 18996010)