D264V (p.Asp264Val) variant of GLA (Alpha-galactosidase A)
D264V (p.Asp264Val) 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; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
D264V (p.Asp264Val) variant details
- p.Asp264Val
- rs28935486
- ClinGen CA022056
- ClinVar RCV000011480
- ClinVar RCV000724649
- Pathogenic/Likely pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (PMID 15712228)
- Cited in: Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. (PMID 7504405)