L167P (p.Leu167Pro) variant of GLA (Alpha-galactosidase A)
L167P (p.Leu167Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
L167P (p.Leu167Pro) variant details
- p.Leu167Pro
- rs1928319806
- ClinGen CA413929028
- ClinVar RCV001269208
- Ensembl rs1928319806
- Pathogenic/Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (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)