Y766N (p.Tyr766Asn) variant of GAA (Lysosomal alpha-glucosidase)
Y766N (p.Tyr766Asn) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Glycogen storage disease, type II; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Y766N (p.Tyr766Asn) variant details
- p.Tyr766Asn
- rs941181575
- ClinGen CA294856634
- ClinVar RCV001302690
- ClinVar RCV003145534
- Conflicting interpretations
- Glycogen storage disease, type II; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II; not provided)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)