R41W (p.Arg41Trp) variant of FBN1 (Fibrillin-1)
R41W (p.Arg41Trp) 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.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- cosmic curated COSV10035
- TOPMed rs1158441291
- gnomAD rs1158441291
- Uncertain significance
- Missense
- REVEL 0.53
- CADD 27.90
- PolyPhen-2 0.42
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available