R594H (p.Arg594His) variant of GAA (Lysosomal alpha-glucosidase)
R594H (p.Arg594His) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R594H (p.Arg594His) variant details
- p.Arg594His
- rs775450536
- ClinGen CA8815477
- ClinVar RCV001248866
- ClinVar RCV001876297
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.93
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the… (PMID 22644586)
- Cited in: Pompe Disease. (PMID 20301438)