Y6F (p.Tyr6Phe) variant of APC (Adenomatous polyposis coli protein)
Y6F (p.Tyr6Phe) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
Y6F (p.Tyr6Phe) variant details
- p.Tyr6Phe
- TOPMed rs1754781754
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- ESM-1b 0.00
- AlphaMissense 0.59
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available