N28S (p.Asn28Ser) variant of FBN1 (Fibrillin-1)
N28S (p.Asn28Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- rs193922245
- ClinGen CA017720
- ClinVar RCV000181490
- ClinVar RCV000231311
- Likely benign
- Missense
- REVEL 0.06
- MetaLR 0.21
- MetaSVM -0.96
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)