T60I (p.Thr60Ile) variant of TTR (Transthyretin)
T60I (p.Thr60Ile) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
T60I (p.Thr60Ile) variant details
- p.Thr60Ile
- rs113625622
- ClinGen CA297736966
- ClinVar RCV002407850
- Ensembl rs113625622
- Uncertain significance
- Cardiovascular phenotype
- 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: Uncertain significance (Cardiovascular phenotype)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available