A27T (p.Ala27Thr) variant of FBN1 (Fibrillin-1)
A27T (p.Ala27Thr) 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.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs25397
- ClinGen CA017499
- ClinVar RCV000150707
- ClinVar RCV000246481
- Benign
- Missense
- REVEL 0.10
- MetaLR 0.27
- MetaSVM -0.80
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.37
- EBI: Benign (in dbSNP:rs25397)
- UniProt: Benign (in dbSNP:rs25397)
- Most common in the African/African-American population (allele frequency 2.8e-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)