L37P (p.Leu37Pro) variant of TTR (Transthyretin)
L37P (p.Leu37Pro) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyloidosis, hereditary systemic 1. The record also includes published literature and structural context.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- rs2510932354
- ClinGen CA402156599
- ClinVar RCV002305193
- Uncertain significance
- Amyloidosis, hereditary systemic 1
- Missense
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)