G55R (p.Gly55Arg) variant of FBN1 (Fibrillin-1)
G55R (p.Gly55Arg) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FBN1-related disorder. The record also includes variant effect predictions and population frequency data.
G55R (p.Gly55Arg) variant details
- p.Gly55Arg
- rs1566944812
- ClinGen CA392453409
- ClinVar RCV004528683
- Uncertain significance
- FBN1-related disorder
- Missense
- REVEL 0.81
- AlphaMissense 0.92
- MetaLR 0.78
- MetaSVM 0.76
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (FBN1-related disorder)
- EBI: Variant of uncertain significance (in MFS)
- UniProt: Uncertain significance (in MFS)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)