R594P (p.Arg594Pro) variant of GAA (Lysosomal alpha-glucosidase)
R594P (p.Arg594Pro) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R594P (p.Arg594Pro) variant details
- p.Arg594Pro
- rs775450536
- ClinGen CA8815476
- ClinVar RCV000375289
- ClinVar RCV001248974
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.94
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD and LOPD)
- UniProt: Pathogenic (in IOPD and LOPD)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. (PMID 18425781)
- Cited in: Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. (PMID 19588081)