T60N (p.Thr60Asn) variant of TTR (Transthyretin)
T60N (p.Thr60Asn) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
T60N (p.Thr60Asn) variant details
- p.Thr60Asn
- rs113625622
- ClinGen CA402156843
- ClinVar RCV001377431
- ClinVar RCV002404893
- Pathogenic/Likely pathogenic
- not provided; Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.13
- MetaLR 0.70
- MetaSVM -0.15
- PolyPhen-2 0.00
- SIFT 0.12
- EVE 0.14
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiovascular phenotype; Amyloidosis, hereditary)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)