R34C (p.Arg34Cys) variant of SGCA (Alpha-sarcoglycan)
R34C (p.Arg34Cys) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- rs758647756
- ClinGen CA210084
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10000
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.81
- AlphaMissense 0.35
- MetaLR 0.94
- MetaSVM 1.00
- CADD 25.80
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). (PMID 9192266)
- Cited in: Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (PMID 18996010)