F13C (p.Phe13Cys) variant of FBN1 (Fibrillin-1)
F13C (p.Phe13Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Acromicric dysplasia; Familial thoracic aortic aneurysm and aortic dissection; M. The record also includes variant effect predictions, population frequency data, and published literature.
F13C (p.Phe13Cys) variant details
- p.Phe13Cys
- rs773614956
- ClinGen CA051680
- ClinVar RCV001117420
- ClinVar RCV001117421
- Conflicting interpretations
- Acromicric dysplasia; Familial thoracic aortic aneurysm and aortic dissection; M
- Missense
- REVEL 0.41
- MetaLR 0.37
- MetaSVM -0.33
- CADD 26.00
- PolyPhen-2 0.89
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Acromicric dysplasia; Familial thoracic aortic aneurysm and aort)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)