E1480D (p.Glu1480Asp) variant of CHD8 (Q9HCK8)
E1480D (p.Glu1480Asp) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Intellectual developmental disorder with autism and macrocephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature.
E1480D (p.Glu1480Asp) variant details
- p.Glu1480Asp
- rs2139462537
- ClinGen CA388894060
- ClinVar RCV002249356
- Ensembl rs2139462537
- Pathogenic
- Intellectual developmental disorder with autism and macrocephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 0.92
- MetaLR 0.80
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.94
- ClinVar: Pathogenic (Intellectual developmental disorder with autism and macrocephaly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: CHD8-Related Neurodevelopmental Disorder with Overgrowth. (PMID 36302072)