G648S (p.Gly648Ser) variant of GAA (Lysosomal alpha-glucosidase)
G648S (p.Gly648Ser) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G648S (p.Gly648Ser) variant details
- p.Gly648Ser
- rs536906561
- ClinGen CA274102
- NCI-TCGA Cosmic COSV5641
- cosmic curated COSV56412
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.98
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in LOPD)
- UniProt: Pathogenic (in LOPD)
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two… (PMID 9535769)
- Cited in: Pompe Disease. (PMID 20301438)