L415R (p.Leu415Arg) variant of GLA (Alpha-galactosidase A)
L415R (p.Leu415Arg) 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 not specified; 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.
L415R (p.Leu415Arg) variant details
- p.Leu415Arg
- rs112341092
- ClinGen CA413919010
- ClinVar RCV001260336
- ClinVar RCV005645240
- Conflicting interpretations
- not specified; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Conflicting classifications of pathogenicity (not specified; Fabry disease)
- 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)