V58I (p.Val58Ile) variant of FBN1 (Fibrillin-1)
V58I (p.Val58Ile) in FBN1 (Fibrillin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
V58I (p.Val58Ile) variant details
- p.Val58Ile
- NCI-TCGA TCGA novel
- TOPMed rs2044669648
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.25
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available