H568L (p.His568Leu) variant of GAA (Lysosomal alpha-glucosidase)
H568L (p.His568Leu) in GAA (Lysosomal alpha-glucosidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H568L (p.His568Leu) variant details
- p.His568Leu
- rs2143882997
- ClinGen CA401369027
- ClinVar RCV001781144
- ClinVar RCV001885183
- Conflicting interpretations
- not provided; Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.97
- AlphaMissense 0.68
- MetaLR 0.92
- MetaSVM 1.07
- CADD 27.50
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; 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: A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA… (PMID 22676651)
- Cited in: Pompe Disease. (PMID 20301438)