N18S (p.Asn18Ser) variant of CHD2 (O14647)
N18S (p.Asn18Ser) in CHD2 (O14647) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Developmental and epileptic encephalopathy 94. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N18S (p.Asn18Ser) variant details
- p.Asn18Ser
- rs1034044226
- ClinGen CA274884110
- ClinVar RCV001474557
- TOPMed rs1034044226
- Likely benign
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.33
- MetaLR 0.67
- MetaSVM 0.18
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Likely benign (Developmental and epileptic encephalopathy 94)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)