Y134H (p.Tyr134His) variant of TTR (Transthyretin)
Y134H (p.Tyr134His) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carpal tunnel syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
Y134H (p.Tyr134His) variant details
- p.Tyr134His
- rs121918088
- ClinGen CA123104
- ClinVar RCV000014391
- UniProt VAR 007598
- Pathogenic
- Carpal tunnel syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.58
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.22
- ClinVar: Pathogenic (Carpal tunnel syndrome 1)
- EBI: Pathogenic (in CTS1)
- UniProt: Pathogenic (in CTS1)
- Structural context available
- Cited in: Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. (PMID 8309582)