V247M (p.Val247Met) variant of SGCA (Alpha-sarcoglycan)
V247M (p.Val247Met) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V247M (p.Val247Met) variant details
- p.Val247Met
- rs143570936
- ClinGen CA203189
- ClinVar RCV000179241
- ClinVar RCV000710212
- Pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.67
- CADD 27.80
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Middle Eastern population (allele frequency 0.00052)
- 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)