L6F (p.Leu6Phe) variant of CDKN1C (P49918)
L6F (p.Leu6Phe) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Beckwith-Wiedemann syndrome. The record also includes structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- cosmic curated COSV10053
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- UniProt: Uncertain significance
- Structural context available