D92H (p.Asp92His) variant of GLA (Alpha-galactosidase A)
D92H (p.Asp92His) 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 0.97 / 1. The record also includes published literature and structural context.
D92H (p.Asp92His) variant details
- p.Asp92His
- rs886041315
- ClinGen CA413933757
- ClinVar RCV001553582
- UniProt VAR 012376
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 0.97
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other… (PMID 8875188)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)