P40L (p.Pro40Leu) variant of GLA (Alpha-galactosidase A)
P40L (p.Pro40Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- rs398123199
- ClinGen CA413937240
- ClinVar RCV000781427
- UniProt VAR 012364
- Pathogenic/Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.84
- MetaLR 1.00
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in… (PMID 10916280)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)