R594C (p.Arg594Cys) variant of GAA (Lysosomal alpha-glucosidase)
R594C (p.Arg594Cys) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R594C (p.Arg594Cys) variant details
- p.Arg594Cys
- rs1428112902
- ClinGen CA401369359
- cosmic curated COSV10512
- ClinVar RCV000820272
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.84
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Likely pathogenic (in IOPD and LOPD)
- UniProt: Likely pathogenic (in IOPD and LOPD)
- Most common in the South Asian population (allele frequency 2.3e-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)