A18G (p.Ala18Gly) variant of FBN1 (Fibrillin-1)
A18G (p.Ala18Gly) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- ExAC rs770295085
- TOPMed rs770295085
- gnomAD rs770295085
- Uncertain significance
- Missense
- REVEL 0.08
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available