D274N (p.Asp274Asn) variant of CDKN1C (P49918)
D274N (p.Asp274Asn) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Beckwith-Wiedemann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
D274N (p.Asp274Asn) variant details
- p.Asp274Asn
- rs387907225
- ClinGen CA260081
- ClinVar RCV001380060
- ClinVar RCV002513231
- Pathogenic
- Inborn genetic diseases; Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.95
- MetaLR 0.70
- MetaSVM -0.12
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.24
- ClinVar: Pathogenic (Inborn genetic diseases; Beckwith-Wiedemann syndrome)
- EBI: Pathogenic (in IMAGE)
- UniProt: Pathogenic (in IMAGE)
- Structural context available
- Cited in: Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. (PMID 22634751)
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)