Q47R (p.Gln47Arg) variant of CDKN1C (P49918)
Q47R (p.Gln47Arg) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- rs2494390317
- ClinGen CA379147630
- ClinVar RCV002297448
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.36
- MetaLR 0.39
- MetaSVM -0.13
- CADD 22.50
- PolyPhen-2 0.44
- SIFT 0.15
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)