R279P (p.Arg279Pro) variant of CDKN1C (P49918)
R279P (p.Arg279Pro) 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 0.60 / 1. The record also includes published literature and structural context.
R279P (p.Arg279Pro) variant details
- p.Arg279Pro
- rs318240750
- ClinVar RCV004592408
- UniProt VAR 068852
- Pathogenic
- IMAGe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.06
- MetaLR 0.80
- MetaSVM 0.26
- PolyPhen-2 1.00
- SIFT 0.14
- MutPred 0.25
- 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)