R7C (p.Arg7Cys) variant of CDKN1C (P49918)
R7C (p.Arg7Cys) 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 population frequency data, published literature, and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- rs374634184
- ClinGen CA5822251
- ClinVar RCV000469288
- ClinVar RCV004722759
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.39
- MetaLR 0.66
- MetaSVM 0.06
- CADD 24.50
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)