G334S (p.Gly334Ser) variant of GAA (Lysosomal alpha-glucosidase)
G334S (p.Gly334Ser) 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 0.90 / 1. The record also includes published literature and structural context.
G334S (p.Gly334Ser) variant details
- p.Gly334Ser
- rs886042960
- ClinGen CA401364531
- ClinVar RCV001045915
- Ensembl rs886042960
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.95
- MetaLR 0.89
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
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