A9T (p.Ala9Thr) variant of FH (P07954)
A9T (p.Ala9Thr) in FH (P07954) 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 record also includes structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- TOPMed rs1660323710
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available