P106R (p.Pro106Arg) variant of CDKN1C (P49918)
P106R (p.Pro106Arg) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P106R (p.Pro106Arg) variant details
- p.Pro106Arg
- rs1848966308
- ClinVar RCV004575553
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.21
- CADD 23.80
- PolyPhen-2 0.13
- SIFT 0.01
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5.3e-05)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)