S28F (p.Ser28Phe) variant of TTR (Transthyretin)
S28F (p.Ser28Phe) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S28F (p.Ser28Phe) variant details
- p.Ser28Phe
- rs1313375879
- ClinGen CA402156479
- ClinVar RCV001769251
- ClinVar RCV001868586
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.45
- MetaLR 0.81
- MetaSVM 0.61
- CADD 19.10
- PolyPhen-2 0.36
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)