Y89H (p.Tyr89His) variant of TTR (Transthyretin)
Y89H (p.Tyr89His) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
Y89H (p.Tyr89His) variant details
- p.Tyr89His
- rs121918100
- ClinGen CA123120
- ClinVar RCV000586493
- ClinVar RCV001811140
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.74
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.42
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. (PMID 12771253)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)