E71G (p.Glu71Gly) variant of GLA (Alpha-galactosidase A)
E71G (p.Glu71Gly) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E71G (p.Glu71Gly) variant details
- p.Glu71Gly
- rs781927744
- ClinGen CA030441
- ClinVar RCV000209041
- ClinVar RCV000209598
- Uncertain significance
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.57
- MetaLR 0.99
- MetaSVM 1.03
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Fabry disease)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. (PMID 26415523)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)