R98C (p.Arg98Cys) variant of SGCA (Alpha-sarcoglycan)
R98C (p.Arg98Cys) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R98C (p.Arg98Cys) variant details
- p.Arg98Cys
- rs138945081
- ClinGen CA8643744
- ClinVar RCV000309945
- ClinVar RCV000485521
- Pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.66
- AlphaMissense 0.12
- MetaLR 0.92
- MetaSVM 0.60
- CADD 24.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (PMID 18996010)
- Cited in: Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular… (PMID 30345904)