R81H (p.Arg81His) variant of SGCA (Alpha-sarcoglycan)
R81H (p.Arg81His) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive limb-girdle muscular dystrophy type 2D; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
R81H (p.Arg81His) variant details
- p.Arg81His
- rs747984529
- ClinGen CA8643738
- ClinVar RCV000733070
- ClinVar RCV001830630
- Conflicting interpretations
- Autosomal recessive limb-girdle muscular dystrophy type 2D; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive limb-girdle muscular dystrophy type 2D; not)
- EBI: Likely pathogenic (in LGMDR3)
- UniProt: Likely pathogenic (in LGMDR3)
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available