E137Q (p.Glu137Gln) variant of SGCA (Alpha-sarcoglycan)
E137Q (p.Glu137Gln) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D; not provided; Autoso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E137Q (p.Glu137Gln) variant details
- p.Glu137Gln
- rs372210292
- ClinGen CA400179814
- ClinVar RCV000670049
- ClinVar RCV003155270
- Conflicting interpretations
- Autosomal recessive limb-girdle muscular dystrophy type 2D; not provided; Autoso
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.77
- CADD 23.90
- PolyPhen-2 0.72
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive limb-girdle muscular dystrophy type 2D; not)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available