V196I (p.Val196Ile) variant of SGCA (Alpha-sarcoglycan)
V196I (p.Val196Ile) 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 type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
V196I (p.Val196Ile) variant details
- p.Val196Ile
- rs752695991
- ClinGen CA10605322
- ClinVar RCV000388314
- ClinVar RCV003509524
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.15
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 0.93
- SIFT 0.02
- EVE 0.32
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Structural context available
- Cited in: Mutations in the sarcoglycan genes in patients with myopathy. (PMID 9032047)
- Cited in: Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (PMID 18996010)