S619R (p.Ser619Arg) variant of GAA (Lysosomal alpha-glucosidase)
S619R (p.Ser619Arg) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S619R (p.Ser619Arg) variant details
- p.Ser619Arg
- rs2510381595
- ClinGen CA401369651
- ClinVar RCV003503510
- Pathogenic/Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.80
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in LOPD)
- UniProt: Pathogenic (in LOPD)
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: New GAA mutations in Japanese patients with GSDII (Pompe disease). (PMID 14643388)
- Cited in: Pompe Disease. (PMID 20301438)