L32P (p.Leu32Pro) variant of GLA (Alpha-galactosidase A)
L32P (p.Leu32Pro) 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; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- rs1569306168
- ClinGen CA413937429
- ClinVar RCV000727580
- ClinVar RCV003509593
- Pathogenic/Likely pathogenic
- Fabry disease; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.49
- MetaLR 1.00
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (Fabry disease; not provided; Cardiovascular phenotype)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's… (PMID 7599642)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)