G68E (p.Gly68Glu) variant of SGCA (Alpha-sarcoglycan)
G68E (p.Gly68Glu) 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 0.74 / 1. The record also includes published literature and structural context.
G68E (p.Gly68Glu) variant details
- p.Gly68Glu
- rs2144494148
- ClinGen CA400177350
- NCI-TCGA Cosmic COSV5624
- cosmic curated COSV56248
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- AlphaMissense 0.26
- MetaLR 0.94
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.58
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- 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)