R44G (p.Arg44Gly) variant of FBN1 (Fibrillin-1)
R44G (p.Arg44Gly) in FBN1 (Fibrillin-1) is a missense change. The record also includes variant effect predictions and population frequency data.
R44G (p.Arg44Gly) variant details
- p.Arg44Gly
- gnomAD rs1341910595
- Missense
- REVEL 0.58
- CADD 32.00
- Population evidence available