S82R (p.Ser82Arg) variant of SGCA (Alpha-sarcoglycan)
S82R (p.Ser82Arg) 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 0.72 / 1. The record also includes structural context.
S82R (p.Ser82Arg) variant details
- p.Ser82Arg
- rs1598265282
- ClinGen CA400177611
- ClinVar RCV001004937
- ClinVar RCV001814253
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- AlphaMissense 0.69
- MetaLR 0.93
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.18
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available