P482L (p.Pro482Leu) variant of GAA (Lysosomal alpha-glucosidase)
P482L (p.Pro482Leu) 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 population frequency data, published literature, and structural context.
P482L (p.Pro482Leu) variant details
- p.Pro482Leu
- rs2039212985
- ClinGen CA401366796
- ClinVar RCV001261923
- ClinVar RCV001780211
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.92
- AlphaMissense 0.85
- MetaLR 0.92
- MetaSVM 1.06
- CADD 25.40
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- 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)