L14I (p.Leu14Ile) variant of FH (P07954)
L14I (p.Leu14Ile) 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; not provided. The record also includes structural context.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- TOPMed rs981562354
- gnomAD rs981562354
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available