F159C (p.Phe159Cys) variant of GLA (Alpha-galactosidase A)
F159C (p.Phe159Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
F159C (p.Phe159Cys) variant details
- p.Phe159Cys
- rs1555985814
- ClinGen CA413929340
- ClinVar RCV000554768
- Ensembl rs1555985814
- Conflicting interpretations
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 0.94
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Conflicting classifications of pathogenicity (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)