R74P (p.Arg74Pro) variant of SGCA (Alpha-sarcoglycan)
R74P (p.Arg74Pro) 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 0.60 / 1. The record also includes population frequency data and structural context.
R74P (p.Arg74Pro) variant details
- p.Arg74Pro
- rs779439298
- ClinGen CA400177466
- ClinVar RCV002002976
- ExAC rs779439298
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.73
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.15
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Likely pathogenic (in LGMDR3)
- UniProt: Likely pathogenic (in LGMDR3)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available