R81S (p.Arg81Ser) variant of SGCA (Alpha-sarcoglycan)
R81S (p.Arg81Ser) 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 type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
R81S (p.Arg81Ser) variant details
- p.Arg81Ser
- rs398123098
- ClinGen CA8643737
- ClinVar RCV001930566
- ExAC rs398123098
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.69
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available