L89F (p.Leu89Phe) variant of GLA (Alpha-galactosidase A)
L89F (p.Leu89Phe) 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 Fabry disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
L89F (p.Leu89Phe) variant details
- p.Leu89Phe
- rs1555986305
- ClinGen CA413933792
- ClinVar RCV000525086
- ClinVar RCV000590425
- Conflicting interpretations
- Fabry disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.07
- MetaLR 0.97
- MetaSVM 1.48
- PolyPhen-2 0.02
- SIFT 1.00
- EVE 0.06
- ClinVar: Conflicting classifications of pathogenicity (Fabry disease; not provided)
- EBI: Variant of uncertain significance (in FABRYD)
- UniProt: Uncertain significance (in FABRYD)
- 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)