R74Q (p.Arg74Gln) variant of SGCA (Alpha-sarcoglycan)
R74Q (p.Arg74Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- rs779439298
- ClinGen CA8643736
- NCI-TCGA Cosmic COSV5624
- cosmic curated COSV56249
- Conflicting interpretations
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.38
- CADD 22.10
- PolyPhen-2 0.15
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive limb-girdle muscular dystrophy type 2D)
- EBI: Likely pathogenic (in LGMDR3)
- UniProt: Likely pathogenic (in LGMDR3)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available