G98E (p.Gly98Glu) variant of CDKN1C (P49918)
G98E (p.Gly98Glu) 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 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G98E (p.Gly98Glu) variant details
- p.Gly98Glu
- rs1398439636
- ClinGen CA379147049
- cosmic curated COSV10589
- ClinVar RCV001897442
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.99
- MetaLR 0.70
- MetaSVM -0.03
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.27
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)