H46P (p.His46Pro) variant of GLA (Alpha-galactosidase A)
H46P (p.His46Pro) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fabry disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
H46P (p.His46Pro) variant details
- p.His46Pro
- rs398123203
- ClinGen CA413937084
- ClinVar RCV003066356
- ClinVar RCV003491211
- Likely pathogenic
- Fabry disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 0.84
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.08
- EVE 0.77
- ClinVar: Likely pathogenic (Fabry disease; not provided)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A… (PMID 19621417)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)