I46V (p.Ile46Val) variant of TTR (Transthyretin)
I46V (p.Ile46Val) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hyperthyroxinemia, dystransthyretinemic; Carpal tunnel syndrome 1; Amyloidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- rs773584864
- ClinGen CA8928416
- ClinVar RCV000235774
- ClinVar RCV000796860
- Conflicting interpretations
- Hyperthyroxinemia, dystransthyretinemic; Carpal tunnel syndrome 1; Amyloidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.19
- MetaLR 0.46
- MetaSVM -0.42
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Hyperthyroxinemia, dystransthyretinemic; Carpal tunnel syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)