R221P (p.Arg221Pro) variant of SGCA (Alpha-sarcoglycan)
R221P (p.Arg221Pro) 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 0.73 / 1. The record also includes population frequency data and structural context.
R221P (p.Arg221Pro) variant details
- p.Arg221Pro
- rs138254713
- ClinGen CA400180670
- ClinVar RCV000596074
- ClinVar RCV003139891
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.77
- CADD 26.60
- 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