L16P (p.Leu16Pro) variant of GLA (Alpha-galactosidase A)
L16P (p.Leu16Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- rs869312310
- ClinGen CA413937741
- ClinVar RCV002337874
- ClinVar RCV003096472
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.14
- MetaLR 0.99
- MetaSVM 1.34
- PolyPhen-2 0.88
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Fabry disease)
- EBI: Pathogenic
- UniProt: 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)