E11G (p.Glu11Gly) variant of CHD2 (O14647)
E11G (p.Glu11Gly) in CHD2 (O14647) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy 94. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- rs1411246213
- ClinVar RCV004594910
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.16
- MetaLR 0.68
- MetaSVM 0.51
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.27
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 94)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)