K278E (p.Lys278Glu) variant of CDKN1C (P49918)
K278E (p.Lys278Glu) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of IMAGe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
K278E (p.Lys278Glu) variant details
- p.Lys278Glu
- rs387907226
- UniProt VAR 068851
- Ensembl rs387907226
- Pathogenic
- IMAGe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- AlphaMissense 0.88
- MetaLR 0.83
- MetaSVM 0.23
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (IMAGe 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)