D616N (p.Asp616Asn) variant of GAA (Lysosomal alpha-glucosidase)
D616N (p.Asp616Asn) 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 not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D616N (p.Asp616Asn) variant details
- p.Asp616Asn
- rs796161389
- ClinGen CA294896447
- ClinVar RCV001918845
- ClinVar RCV003490935
- Conflicting interpretations
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.89
- AlphaMissense 0.75
- MetaLR 0.97
- MetaSVM 1.07
- CADD 29.80
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glycogen storage disease, type II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)