G377C (p.Gly377Cys) variant of GAA (Lysosomal alpha-glucosidase)
G377C (p.Gly377Cys) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G377C (p.Gly377Cys) variant details
- p.Gly377Cys
- rs752002666
- ClinGen CA401365013
- ClinVar RCV001307146
- ExAC rs752002666
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.86
- MetaLR 0.94
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Structural context available
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