R86W (p.Arg86Trp) variant of FBN1 (Fibrillin-1)
R86W (p.Arg86Trp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Marfan syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
R86W (p.Arg86Trp) variant details
- p.Arg86Trp
- rs769979790
- ClinGen CA048069
- ClinVar RCV004011982
- ExAC rs769979790
- Uncertain significance
- Marfan syndrome
- Missense
- REVEL 0.67
- MetaLR 0.69
- MetaSVM 0.47
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Marfan syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)