Q67E (p.Gln67Glu) variant of SGCA (Alpha-sarcoglycan)
Q67E (p.Gln67Glu) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Q67E (p.Gln67Glu) variant details
- p.Gln67Glu
- rs753180048
- ClinGen CA8643732
- ClinVar RCV001875342
- ExAC rs753180048
- Uncertain significance
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.43
- CADD 21.60
- PolyPhen-2 0.25
- SIFT 0.16
- ClinVar: Uncertain significance (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available