P482R (p.Pro482Arg) variant of GAA (Lysosomal alpha-glucosidase)
P482R (p.Pro482Arg) 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 0.86 / 1. The record also includes published literature and structural context.
P482R (p.Pro482Arg) variant details
- p.Pro482Arg
- rs2039212985
- ClinGen CA401366794
- ClinVar RCV001378875
- ClinVar RCV001780289
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.85
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.66
- 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 107 sequence variants and a format for severity rating. (PMID 18425781)
- Cited in: Pompe Disease. (PMID 20301438)