S97Y (p.Ser97Tyr) variant of TTR (Transthyretin)
S97Y (p.Ser97Tyr) 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; Carpal tunnel syndrome 1; Hyperthyroxinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
S97Y (p.Ser97Tyr) variant details
- p.Ser97Tyr
- rs121918071
- ClinGen CA256800
- ClinVar RCV000014364
- ClinVar RCV000519257
- Pathogenic/Likely pathogenic
- Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hyperthyroxinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.71
- AlphaMissense 0.19
- MetaLR 0.86
- MetaSVM 0.91
- CADD 22.60
- PolyPhen-2 0.72
- ClinVar: Pathogenic/Likely pathogenic (Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hy)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: Identification of transthyretin variants by sequential proteomic and genomic analysis. (PMID 15217993)
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)