D155E (p.Asp155Glu) variant of GLA (Alpha-galactosidase A)
D155E (p.Asp155Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
D155E (p.Asp155Glu) variant details
- p.Asp155Glu
- rs782197072
- ClinGen CA413929474
- ClinVar RCV000624136
- ExAC rs782197072
- Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)