D57E (p.Asp57Glu) variant of CDKN1C (P49918)
D57E (p.Asp57Glu) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D57E (p.Asp57Glu) variant details
- p.Asp57Glu
- rs777465972
- ClinGen CA379147525
- cosmic curated COSV57832
- ClinVar RCV002051517
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.72
- CADD 21.60
- PolyPhen-2 0.26
- SIFT 0.10
- 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)