M51L (p.Met51Leu) variant of GLA (Alpha-galactosidase A)
M51L (p.Met51Leu) 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 0.59 / 1. The record also includes published literature and structural context.
M51L (p.Met51Leu) variant details
- p.Met51Leu
- rs1569306069
- ClinGen CA413936939
- ClinVar RCV000681675
- ClinVar RCV000797100
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- AlphaMissense 0.08
- MetaLR 0.97
- MetaSVM 1.36
- PolyPhen-2 0.00
- SIFT 0.14
- EVE 0.13
- ClinVar: Uncertain significance (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)