N28D (p.Asn28Asp) variant of FBN1 (Fibrillin-1)
N28D (p.Asn28Asp) 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 and published literature.
N28D (p.Asn28Asp) variant details
- p.Asn28Asp
- rs1555407418
- ClinGen CA392453711
- ClinVar RCV000590605
- ClinVar RCV001311861
- Uncertain significance
- Missense
- AlphaMissense 0.06
- MetaLR 0.17
- MetaSVM -0.92
- SIFT 0.70
- MutPred 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)