D266H (p.Asp266His) variant of GLA (Alpha-galactosidase A)
D266H (p.Asp266His) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
D266H (p.Asp266His) variant details
- p.Asp266His
- rs869312407
- ClinGen CA413923816
- ClinVar RCV003305372
- ClinVar RCV005645466
- Conflicting interpretations
- Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 0.83
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in… (PMID 10916280)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)