N47S (p.Asn47Ser) variant of TTR (Transthyretin)
N47S (p.Asn47Ser) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
N47S (p.Asn47Ser) variant details
- p.Asn47Ser
- rs145551875
- ClinGen CA182022
- ClinVar RCV000155020
- ClinVar RCV000228167
- Conflicting interpretations
- Carpal tunnel syndrome 1; Amyloidosis, hereditary systemic 1; Hyperthyroxinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.30
- MetaLR 0.73
- MetaSVM -0.06
- CADD 7.55
- PolyPhen-2 0.01
- SIFT 0.39
- ClinVar: Conflicting classifications of pathogenicity (Carpal tunnel syndrome 1; Amyloidosis, hereditary systemic 1; Hy)
- 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)