G17R (p.Gly17Arg) variant of SGCA (Alpha-sarcoglycan)
G17R (p.Gly17Arg) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- rs573792379
- ClinGen CA8643683
- cosmic curated COSV56250
- ClinVar RCV000648062
- Conflicting interpretations
- not provided; Autosomal recessive limb-girdle muscular dystrophy type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.30
- CADD 9.38
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive limb-girdle muscular dystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.01)
- Structural context available