C30Y (p.Cys30Tyr) variant of TTR (Transthyretin)
C30Y (p.Cys30Tyr) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
C30Y (p.Cys30Tyr) variant details
- p.Cys30Tyr
- rs2144406508
- ClinGen CA402156507
- ClinVar RCV001986200
- Ensembl rs2144406508
- Likely pathogenic
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.52
- MetaLR 0.93
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Likely pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Likely pathogenic (in AMYLD1)
- UniProt: Likely pathogenic (in AMYLD1)
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)