R6W (p.Arg6Trp) variant of FBN2 (Fibrillin-2)
R6W (p.Arg6Trp) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- rs1421758738
- ClinGen CA360763578
- ClinVar RCV003526930
- ClinVar RCV004783075
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.46
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Congenital Contractural Arachnodactyly. (PMID 20301560)
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)