S54F (p.Ser54Phe) variant of FBN2 (Fibrillin-2)
S54F (p.Ser54Phe) 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.
S54F (p.Ser54Phe) variant details
- p.Ser54Phe
- rs1357307403
- ClinGen CA360762406
- ClinVar RCV003852063
- TOPMed rs1357307403
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.12
- MetaLR 0.34
- MetaSVM -0.58
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.24
- 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)