G334C (p.Gly334Cys) variant of GAA (Lysosomal alpha-glucosidase)
G334C (p.Gly334Cys) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G334C (p.Gly334Cys) variant details
- p.Gly334Cys
- rs886042960
- ClinGen CA10604927
- ClinVar RCV000285793
- ClinVar RCV003479092
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.85
- AlphaMissense 0.95
- MetaLR 0.89
- MetaSVM 1.06
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)