E27D (p.Glu27Asp) variant of CHD2 (O14647)
E27D (p.Glu27Asp) 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 0.42 / 1. The record also includes published literature and structural context.
E27D (p.Glu27Asp) variant details
- p.Glu27Asp
- rs2053017198
- ClinGen CA393895919
- ClinVar RCV002020529
- Ensembl rs2053017198
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.10
- MetaLR 0.40
- MetaSVM -0.56
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.24
- 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)