I557F (p.Ile557Phe) variant of GAA (Lysosomal alpha-glucosidase)
I557F (p.Ile557Phe) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I557F (p.Ile557Phe) variant details
- p.Ile557Phe
- rs747150965
- ClinGen CA401368911
- ClinVar RCV000674934
- ClinVar RCV005632621
- Pathogenic
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.66
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Pathogenic (Glycogen storage disease, type II)
- EBI: Pathogenic (in IOPD)
- UniProt: Pathogenic (in IOPD)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. (PMID 20080426)
- Cited in: Pompe Disease. (PMID 20301438)