G615R (p.Gly615Arg) variant of GAA (Lysosomal alpha-glucosidase)
G615R (p.Gly615Arg) 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.
G615R (p.Gly615Arg) variant details
- p.Gly615Arg
- rs549029029
- ClinGen CA273955
- ClinVar RCV000169115
- ClinVar RCV001781521
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.99
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD and LOPD)
- UniProt: Pathogenic (in IOPD and LOPD)
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: Molecular genetic study of Pompe disease in Chinese patients in Taiwan. (PMID 10338092)
- Cited in: Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. (PMID 20080426)