R34H (p.Arg34His) variant of SGCA (Alpha-sarcoglycan)
R34H (p.Arg34His) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- rs371675217
- ClinGen CA199071
- NCI-TCGA Cosmic COSV5624
- cosmic curated COSV56249
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.71
- CADD 22.90
- PolyPhen-2 0.73
- SIFT 0.14
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. (PMID 7663524)
- Cited in: Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (PMID 18996010)