G60A (p.Gly60Ala) variant of FBN1 (Fibrillin-1)
G60A (p.Gly60Ala) 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.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- ESP rs139788702
- ExAC rs139788702
- gnomAD rs139788702
- Uncertain significance
- Missense
- REVEL 0.50
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available