P285R (p.Pro285Arg) variant of GAA (Lysosomal alpha-glucosidase)
P285R (p.Pro285Arg) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P285R (p.Pro285Arg) variant details
- p.Pro285Arg
- rs764622267
- ClinGen CA358045
- ClinVar RCV000797884
- ClinVar RCV003488466
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.88
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in LOPD)
- UniProt: Pathogenic (in LOPD)
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Cited in: Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation… (PMID 14695532)
- Cited in: Pompe Disease. (PMID 20301438)