L14P (p.Leu14Pro) variant of GLA (Alpha-galactosidase A)
L14P (p.Leu14Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- rs730880455
- ClinGen CA021708
- ClinVar RCV000734825
- ClinVar RCV001192396
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- AlphaMissense 0.10
- MetaLR 0.99
- MetaSVM 1.35
- PolyPhen-2 0.84
- SIFT 0.00
- MutPred 0.88
- 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)