C108Y (p.Cys108Tyr) variant of GAA (Lysosomal alpha-glucosidase)
C108Y (p.Cys108Tyr) 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 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C108Y (p.Cys108Tyr) variant details
- p.Cys108Tyr
- rs2039038796
- ClinGen CA401360744
- ClinVar RCV003468226
- Ensembl rs2039038796
- Uncertain significance
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.97
- MetaLR 0.95
- MetaSVM 1.11
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glycogen storage disease, type II)
- EBI: Likely pathogenic (in IOPD)
- UniProt: Likely pathogenic (in IOPD)
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)