D3N (p.Asp3Asn) variant of CDKN1C (P49918)
D3N (p.Asp3Asn) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- rs1452796504
- ClinGen CA379148039
- ClinVar RCV001927676
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 21.00
- SIFT 0.54
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)