G611D (p.Gly611Asp) variant of GAA (Lysosomal alpha-glucosidase)
G611D (p.Gly611Asp) 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 0.90 / 1. The record also includes published literature and structural context.
G611D (p.Gly611Asp) variant details
- p.Gly611Asp
- rs1057517105
- ClinGen CA16041897
- ClinVar RCV000409030
- UniProt VAR 068617
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 0.97
- MetaLR 0.92
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Structural context available
- Cited in: Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the… (PMID 22644586)
- Cited in: Novel GAA mutations in patients with Pompe disease. (PMID 25681614)