P75S (p.Pro75Ser) variant of FBN1 (Fibrillin-1)
P75S (p.Pro75Ser) 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.
P75S (p.Pro75Ser) variant details
- p.Pro75Ser
- rs886051252
- ClinGen CA10642094
- ClinVar RCV000265294
- ClinVar RCV000300622
- Likely benign
- Missense
- REVEL 0.28
- MetaLR 0.41
- MetaSVM -0.39
- CADD 23.70
- PolyPhen-2 0.08
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)