V34L (p.Val34Leu) variant of FBN1 (Fibrillin-1)
V34L (p.Val34Leu) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The record also includes variant effect predictions and population frequency data.
V34L (p.Val34Leu) variant details
- p.Val34Leu
- gnomAD rs1365346856
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- REVEL 0.10
- MetaLR 0.20
- MetaSVM -0.91
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.79
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)