R74W (p.Arg74Trp) variant of SGCA (Alpha-sarcoglycan)
R74W (p.Arg74Trp) 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 Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-gir. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R74W (p.Arg74Trp) variant details
- p.Arg74Trp
- rs757888349
- ClinGen CA199069
- ClinVar RCV000169146
- ClinVar RCV003330528
- Pathogenic/Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-gir
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.75
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy; Autosomal re)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)