F31Y (p.Phe31Tyr) variant of POT1 (Q9NUX5)
F31Y (p.Phe31Tyr) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome. The record also includes structural context.
F31Y (p.Phe31Tyr) variant details
- p.Phe31Tyr
- TOPMed rs1489113369
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available