R600H (p.Arg600His) variant of GAA (Lysosomal alpha-glucosidase)
R600H (p.Arg600His) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R600H (p.Arg600His) variant details
- p.Arg600His
- rs377544304
- ClinGen CA8815482
- cosmic curated COSV56406
- ClinVar RCV000408964
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Molecular genetic study of Pompe disease in Chinese patients in Taiwan. (PMID 10338092)
- Cited in: Pompe Disease. (PMID 20301438)