F16Y (p.Phe16Tyr) variant of TTR (Transthyretin)
F16Y (p.Phe16Tyr) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
F16Y (p.Phe16Tyr) variant details
- p.Phe16Tyr
- rs1598843637
- ClinGen CA402156327
- ClinVar RCV001002096
- Ensembl rs1598843637
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.21
- MetaLR 0.81
- MetaSVM 0.09
- PolyPhen-2 0.01
- SIFT 0.14
- MutPred 0.39
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available