A65T (p.Ala65Thr) variant of TTR (Transthyretin)
A65T (p.Ala65Thr) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Amyloidosis, hereditary systemic 1; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- rs121918078
- ClinGen CA297736998
- ClinVar RCV001054625
- ClinVar RCV001288932
- Pathogenic/Likely pathogenic
- Amyloidosis, hereditary systemic 1; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- AlphaMissense 0.10
- MetaLR 0.88
- MetaSVM 0.82
- PolyPhen-2 0.85
- SIFT 0.14
- EVE 0.14
- ClinVar: Pathogenic/Likely pathogenic (Amyloidosis, hereditary systemic 1; not provided; Cardiovascular)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: A new transthyretin mutation associated with amyloid cardiomyopathy. (PMID 1570831)
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)