F52I (p.Phe52Ile) variant of NOTCH1 (P46531)
F52I (p.Phe52Ile) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5. The record also includes structural context.
F52I (p.Phe52Ile) variant details
- p.Phe52Ile
- Ensembl rs2133379846
- Uncertain significance
- Adams-Oliver syndrome 5
- Missense
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5)
- UniProt: Uncertain significance
- Structural context available