A10V (p.Ala10Val) variant of FBN1 (Fibrillin-1)
A10V (p.Ala10Val) in FBN1 (Fibrillin-1) is a missense change. The record also includes variant effect predictions and population frequency data.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- gnomAD rs1890262969
- Missense
- REVEL 0.15
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available