A56T (p.Ala56Thr) variant of TTR (Transthyretin)
A56T (p.Ala56Thr) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AMYLD1. The record also includes variant effect predictions and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- Ensembl rs121918077
- Pathogenic
- in AMYLD1
- Missense
- MetaLR 0.58
- MetaSVM -0.40
- SIFT 0.35
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available