S47N (p.Ser47Asn) variant of CHD2 (O14647)
S47N (p.Ser47Asn) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S47N (p.Ser47Asn) variant details
- p.Ser47Asn
- rs781140829
- ClinGen CA7747445
- ClinVar RCV003043475
- ExAC rs781140829
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.16
- MetaLR 0.46
- MetaSVM -0.47
- CADD 23.50
- PolyPhen-2 0.05
- SIFT 0.21
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 94)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)