G335R (p.Gly335Arg) variant of GAA (Lysosomal alpha-glucosidase)
G335R (p.Gly335Arg) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G335R (p.Gly335Arg) variant details
- p.Gly335Arg
- rs202095215
- ClinGen CA501005
- ClinVar RCV001249005
- ClinVar RCV005633999
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- AlphaMissense 0.97
- MetaLR 0.91
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the South Asian population (allele frequency 1.2e-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. (PMID 20301438)