E137K (p.Glu137Lys) variant of SGCA (Alpha-sarcoglycan)
E137K (p.Glu137Lys) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E137K (p.Glu137Lys) variant details
- p.Glu137Lys
- rs372210292
- ClinGen CA501039
- cosmic curated COSV56248
- ClinVar RCV000341255
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.72
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the REMAINING population (allele frequency 8.4e-05)
- Structural context available
- Cited in: Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). (PMID 9192266)
- Cited in: Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (PMID 18996010)