F13C (p.Phe13Cys) variant of FBN1 (Fibrillin-1)
F13C (p.Phe13Cys) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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
- Benign
- Missense
- REVEL 0.41
- CADD 26.00
- PolyPhen-2 0.89
- SIFT 0.15
- EBI: Benign
- UniProt: Benign
- Population evidence available
- 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)