A37P (p.Ala37Pro) variant of GLA (Alpha-galactosidase A)
A37P (p.Ala37Pro) 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 Fabry disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
A37P (p.Ala37Pro) variant details
- p.Ala37Pro
- rs869312226
- ClinGen CA413937322
- ClinVar RCV000685810
- ClinVar RCV000734407
- Pathogenic/Likely pathogenic
- Fabry disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.68
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Fabry disease; not provided)
- 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)