F276V (p.Phe276Val) variant of CDKN1C (P49918)
F276V (p.Phe276Val) 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 0.73 / 1. The record also includes published literature and structural context.
F276V (p.Phe276Val) variant details
- p.Phe276Val
- rs387907223
- UniProt VAR 068850
- Ensembl rs387907223
- Pathogenic
- IMAGe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.65
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.56
- 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)