A45T (p.Ala45Thr) variant of TTR (Transthyretin)
A45T (p.Ala45Thr) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- rs104894664
- ClinGen CA256818
- ClinVar RCV000014379
- Ensembl rs104894664
- Pathogenic
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.93
- AlphaMissense 0.68
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Family studies of the genetic abnormality in transthyretin (prealbumin) in Portuguese patients with familial… (PMID 6099706)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)