A20P (p.Ala20Pro) variant of GLA (Alpha-galactosidase A)
A20P (p.Ala20Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- rs104894847
- ClinGen CA021802
- ClinVar RCV000011511
- ClinVar RCV005644481
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.10
- MetaLR 0.99
- MetaSVM 1.74
- PolyPhen-2 0.88
- SIFT 0.08
- MutPred 0.92
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: An atypical variant of Fabry's disease in men with left ventricular hypertrophy. (PMID 7596372)