L369Q (p.Leu369Gln) variant of GAA (Lysosomal alpha-glucosidase)
L369Q (p.Leu369Gln) 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 Glycogen storage disease, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
L369Q (p.Leu369Gln) variant details
- p.Leu369Gln
- rs2039149745
- ClinGen CA401364963
- ClinVar RCV002289401
- Conflicting interpretations
- Glycogen storage disease, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.90
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Conflicting classifications of pathogenicity (Glycogen storage disease, type II)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Pompe Disease. (PMID 20301438)
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