P22L (p.Pro22Leu) variant of CDKN1C (P49918)
P22L (p.Pro22Leu) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Beckwith-Wiedemann syndrome. The record also includes published literature and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs2494391003
- ClinGen CA379147888
- ClinVar RCV002796557
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)