S43R (p.Ser43Arg) variant of TTR (Transthyretin)
S43R (p.Ser43Arg) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Carpal tunnel syndrome 1; Amyloidosis, hereditary systemic 1; Hyperthyroxinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- rs11541800
- ClinGen CA402156656
- ClinVar RCV000795071
- ClinVar RCV002493450
- Uncertain significance
- Carpal tunnel syndrome 1; Amyloidosis, hereditary systemic 1; Hyperthyroxinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.27
- MetaLR 0.58
- MetaSVM -0.31
- CADD 14.00
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (Carpal tunnel syndrome 1; Amyloidosis, hereditary systemic 1; Hy)
- EBI: Variant of uncertain significance (in AMYLD1)
- UniProt: Uncertain significance (in AMYLD1)
- 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)