G335E (p.Gly335Glu) variant of GAA (Lysosomal alpha-glucosidase)
G335E (p.Gly335Glu) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G335E (p.Gly335Glu) variant details
- p.Gly335Glu
- rs730880022
- ClinGen CA273683
- ClinVar RCV000156939
- ClinVar RCV001579766
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.90
- CADD 29.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)