A486P (p.Ala486Pro) variant of GAA (Lysosomal alpha-glucosidase)
A486P (p.Ala486Pro) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A486P (p.Ala486Pro) variant details
- p.Ala486Pro
- rs1283045273
- ClinGen CA401366835
- ClinVar RCV003461594
- TOPMed rs1283045273
- Likely pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.77
- AlphaMissense 0.89
- MetaLR 0.88
- MetaSVM 0.97
- CADD 26.50
- PolyPhen-2 0.97
- 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 1.5e-05)
- Structural context available
- Cited in: Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. (PMID 19588081)
- Cited in: Pompe Disease. (PMID 20301438)