G91C (p.Gly91Cys) variant of SGCA (Alpha-sarcoglycan)
G91C (p.Gly91Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
G91C (p.Gly91Cys) variant details
- p.Gly91Cys
- rs890921874
- ClinGen CA291536150
- ClinVar RCV000648059
- gnomAD rs890921874
- Conflicting interpretations
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- AlphaMissense 0.73
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Likely pathogenic (in LGMDR3)
- UniProt: Likely pathogenic (in LGMDR3)
- Structural context available