L76F (p.Leu76Phe) variant of SGCA (Alpha-sarcoglycan)
L76F (p.Leu76Phe) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
L76F (p.Leu76Phe) variant details
- p.Leu76Phe
- rs1555568335
- ClinGen CA400177503
- ClinVar RCV000498091
- ClinVar RCV001824141
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Structural context available
- Cited in: Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular… (PMID 30345904)
- Cited in: Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (PMID 18996010)