P361R (p.Pro361Arg) variant of GAA (Lysosomal alpha-glucosidase)
P361R (p.Pro361Arg) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P361R (p.Pro361Arg) variant details
- p.Pro361Arg
- rs755253527
- ClinGen CA10606426
- ClinVar RCV000382384
- ClinVar RCV001078141
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.94
- CADD 25.60
- 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 9e-07)
- Structural context available
- Cited in: Novel Mutations Found in Individuals with Adult-Onset Pompe Disease. (PMID 32012848)
- Cited in: Pompe Disease. (PMID 20301438)