E56K (p.Glu56Lys) variant of CDKN1C (P49918)
E56K (p.Glu56Lys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- rs1848974871
- ClinGen CA379147545
- ClinVar RCV001300988
- NCI-TCGA TCGA novel
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.66
- MetaLR 0.54
- MetaSVM -0.28
- PolyPhen-2 0.95
- SIFT 0.02
- EVE 0.61
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)