G49A (p.Gly49Ala) variant of FBN1 (Fibrillin-1)
G49A (p.Gly49Ala) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
G49A (p.Gly49Ala) variant details
- p.Gly49Ala
- rs1382204819
- ClinGen CA392453493
- ClinVar RCV000820304
- ClinVar RCV004822231
- Uncertain significance
- Missense
- REVEL 0.28
- AlphaMissense 0.53
- MetaLR 0.48
- MetaSVM 0.00
- CADD 26.90
- PolyPhen-2 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)