R77C (p.Arg77Cys) variant of SGCA (Alpha-sarcoglycan)
R77C (p.Arg77Cys) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R77C (p.Arg77Cys) variant details
- p.Arg77Cys
- rs28933693
- ClinGen CA120427
- ClinVar RCV000010044
- ClinVar RCV000077937
- Pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. (PMID 18252745)
- Cited in: Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. (PMID 7657792)