E87V (p.Glu87Val) variant of GLA (Alpha-galactosidase A)
E87V (p.Glu87Val) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
E87V (p.Glu87Val) variant details
- p.Glu87Val
- rs1182870909
- ClinGen CA413933833
- ClinVar RCV004012577
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- AlphaMissense 0.15
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 0.21
- SIFT 0.02
- EVE 0.62
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)