G55A (p.Gly55Ala) variant of FBN1 (Fibrillin-1)
G55A (p.Gly55Ala) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Progeroid and marfanoid aspect-lipodystrophy syndrome; MASS syndrome; Geleophysi. The record also includes variant effect predictions and published literature.
G55A (p.Gly55Ala) variant details
- p.Gly55Ala
- rs2140787387
- ClinGen CA392453403
- ClinVar RCV002403641
- ClinVar RCV004796729
- Conflicting interpretations
- Progeroid and marfanoid aspect-lipodystrophy syndrome; MASS syndrome; Geleophysi
- Missense
- AlphaMissense 0.99
- MetaLR 0.79
- MetaSVM 0.75
- SIFT 0.00
- MutPred 0.56
- ClinVar: Conflicting classifications of pathogenicity (Progeroid and marfanoid aspect-lipodystrophy syndrome; MASS synd)
- EBI: Likely pathogenic (in MFS)
- UniProt: Likely pathogenic (in MFS)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)