G57W (p.Gly57Trp) variant of FBN2 (Fibrillin-2)
G57W (p.Gly57Trp) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G57W (p.Gly57Trp) variant details
- p.Gly57Trp
- rs2112810796
- ClinGen CA360762347
- ClinVar RCV001880643
- Ensembl rs2112810796
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.42
- CADD 22.90
- PolyPhen-2 0.37
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)