A15P (p.Ala15Pro) variant of GLA (Alpha-galactosidase A)
A15P (p.Ala15Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- rs869312303
- ClinVar RCV005644868
- gnomAD rs869312303
- Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- AlphaMissense 0.09
- MetaLR 0.98
- MetaSVM 2.31
- PolyPhen-2 0.31
- SIFT 0.20
- MutPred 0.47
- ClinVar: Likely pathogenic (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)