E40K (p.Glu40Lys) variant of CDKN1C (P49918)
E40K (p.Glu40Lys) 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 0.65 / 1. The record also includes published literature and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs1564930723
- ClinGen CA379147710
- ClinVar RCV002604127
- Ensembl rs1564930723
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.71
- MetaLR 0.60
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.63
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)