L19Q (p.Leu19Gln) variant of GLA (Alpha-galactosidase A)
L19Q (p.Leu19Gln) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
L19Q (p.Leu19Gln) variant details
- p.Leu19Gln
- rs1928592578
- ClinGen CA413937691
- ClinVar RCV001293632
- ClinVar RCV005645250
- Conflicting interpretations
- not specified; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 0.09
- MetaLR 0.99
- MetaSVM 1.63
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.93
- ClinVar: Conflicting classifications of pathogenicity (not specified; Fabry disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)