R660C (p.Arg660Cys) variant of GAA (Lysosomal alpha-glucosidase)
R660C (p.Arg660Cys) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R660C (p.Arg660Cys) variant details
- p.Arg660Cys
- rs759518659
- ClinGen CA8815561
- cosmic curated COSV10440
- ClinVar RCV000674901
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in LOPD)
- UniProt: Pathogenic (in LOPD)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)