R221C (p.Arg221Cys) variant of SGCA (Alpha-sarcoglycan)
R221C (p.Arg221Cys) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R221C (p.Arg221Cys) variant details
- p.Arg221Cys
- rs748936034
- ClinGen CA8643859
- ClinVar RCV000669831
- ClinVar RCV000726679
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.79
- CADD 25.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available