G85D (p.Gly85Asp) variant of GLA (Alpha-galactosidase A)
G85D (p.Gly85Asp) 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 not provided; Cardiovascular phenotype; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G85D (p.Gly85Asp) variant details
- p.Gly85Asp
- rs1569304898
- ClinGen CA413933914
- ClinVar RCV000730015
- ClinVar RCV001855746
- Pathogenic/Likely pathogenic
- not provided; Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- AlphaMissense 0.53
- MetaLR 1.00
- MetaSVM 0.86
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiovascular phenotype; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's… (PMID 7599642)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)