G60A (p.Gly60Ala) variant of FBN1 (Fibrillin-1)
G60A (p.Gly60Ala) in FBN1 (Fibrillin-1) is a missense change. The record also includes variant effect predictions and population frequency data.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- ESP rs139788702
- ExAC rs139788702
- gnomAD rs139788702
- Missense
- REVEL 0.50
- AlphaMissense 0.89
- MetaLR 0.65
- MetaSVM 0.28
- CADD 27.00
- PolyPhen-2 0.99
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)