C103G (p.Cys103Gly) variant of GAA (Lysosomal alpha-glucosidase)
C103G (p.Cys103Gly) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C103G (p.Cys103Gly) variant details
- p.Cys103Gly
- rs398123174
- ClinGen CA220404
- ClinVar RCV000078179
- ClinVar RCV000811478
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.98
- MetaLR 0.95
- MetaSVM 1.09
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD and LOPD)
- UniProt: Pathogenic (in IOPD and LOPD)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation… (PMID 14695532)
- Cited in: Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. (PMID 18429042)