A31T (p.Ala31Thr) variant of FBN1 (Fibrillin-1)
A31T (p.Ala31Thr) 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.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs371130701
- ClinGen CA060367
- ClinVar RCV001115964
- ClinVar RCV001115965
- Benign
- Missense
- REVEL 0.15
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.69
- 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)