R7H (p.Arg7His) variant of CDKN1C (P49918)
R7H (p.Arg7His) in CDKN1C (P49918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Beckwith-Wiedemann syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- rs2133786706
- ClinGen CA379148014
- ClinVar RCV001971351
- ClinVar RCV003490984
- Uncertain significance
- not provided; Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.34
- MetaLR 0.66
- MetaSVM -0.07
- CADD 23.50
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)