R98S (p.Arg98Ser) variant of SGCA (Alpha-sarcoglycan)
R98S (p.Arg98Ser) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-gir. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R98S (p.Arg98Ser) variant details
- p.Arg98Ser
- 1000Genomes rs138945081
- ESP rs138945081
- ExAC rs138945081
- TOPMed rs138945081
- Pathogenic/Likely pathogenic
- Autosomal recessive limb-girdle muscular dystrophy; Autosomal recessive limb-gir
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.56
- AlphaMissense 0.12
- MetaLR 0.92
- MetaSVM 0.60
- CADD 23.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive limb-girdle muscular dystrophy; Autosomal re)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available