G168R (p.Gly168Arg) variant of SGCA (Alpha-sarcoglycan)
G168R (p.Gly168Arg) 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 0.59 / 1. The record also includes population frequency data and structural context.
G168R (p.Gly168Arg) variant details
- p.Gly168Arg
- rs199810179
- 1000Genomes rs199810179
- ExAC rs199810179
- gnomAD rs199810179
- Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.55
- CADD 24.10
- PolyPhen-2 0.76
- SIFT 0.09
- ClinVar: Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available