G76R (p.Gly76Arg) variant of FBN1 (Fibrillin-1)
G76R (p.Gly76Arg) in FBN1 (Fibrillin-1) is a missense change. The record also includes variant effect predictions and population frequency data.
G76R (p.Gly76Arg) variant details
- p.Gly76Arg
- Ensembl rs2044668857
- Missense
- REVEL 0.76
- MetaLR 0.71
- MetaSVM 0.50
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)