R18C (p.Arg18Cys) variant of CDKN1C (P49918)
R18C (p.Arg18Cys) 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 0.42 / 1. The record also includes published literature and structural context.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- rs1439697461
- ClinGen CA379147928
- ClinVar RCV003057905
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.13
- MetaLR 0.42
- MetaSVM -0.52
- PolyPhen-2 0.47
- SIFT 0.36
- EVE 0.19
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)