P40S (p.Pro40Ser) variant of GLA (Alpha-galactosidase A)
P40S (p.Pro40Ser) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- rs104894831
- ClinGen CA021436
- ClinVar RCV000011466
- ClinVar RCV000729403
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.83
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid… (PMID 2152885)
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)