R98H (p.Arg98His) variant of SGCA (Alpha-sarcoglycan)
R98H (p.Arg98His) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive limb-girdle muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R98H (p.Arg98His) variant details
- p.Arg98His
- rs137852621
- ClinGen CA120423
- cosmic curated COSV56251
- ClinVar RCV000010042
- Pathogenic
- Autosomal recessive limb-girdle muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.60
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Pathogenic (Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Pathogenic (in LGMDR3)
- UniProt: Pathogenic (in LGMDR3)
- Most common in the HGDP:BASQUE population (allele frequency 0.045)
- Structural context available
- Cited in: Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. (PMID 7663524)
- Cited in: Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. (PMID 8069911)