A52T (p.Ala52Thr) variant of FBN1 (Fibrillin-1)
A52T (p.Ala52Thr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and population frequency data.
A52T (p.Ala52Thr) variant details
- p.Ala52Thr
- rs749989129
- cosmic curated COSV11446
- NCI-TCGA Cosmic COSV5731
- ExAC rs749989129
- Likely benign
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.21
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.40
- ClinVar: Likely benign (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- UniProt: Likely benign
- Population evidence available