L3V (p.Leu3Val) variant of GLA (Alpha-galactosidase A)
L3V (p.Leu3Val) 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 0.68 / 1. The record also includes published literature and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- rs869312133
- ClinGen CA353175
- ClinVar RCV000209209
- ClinVar RCV000209475
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.07
- MetaLR 0.98
- MetaSVM 1.99
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)