E130Q (p.Glu130Gln) variant of CDKN1C (P49918)
E130Q (p.Glu130Gln) 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 0.46 / 1. The record also includes published literature and structural context.
E130Q (p.Glu130Gln) variant details
- p.Glu130Gln
- rs1564930265
- ClinGen CA379146801
- ClinVar RCV003475634
- NCI-TCGA TCGA novel
- Uncertain significance
- Beckwith-Wiedemann syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.15
- MetaLR 0.53
- MetaSVM -0.43
- PolyPhen-2 0.94
- SIFT 0.10
- EVE 0.19
- ClinVar: Uncertain significance (Beckwith-Wiedemann syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)