S20W (p.Ser20Trp) variant of CHD2 (O14647)
S20W (p.Ser20Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S20W (p.Ser20Trp) variant details
- p.Ser20Trp
- rs1057524801
- ClinGen CA16606842
- ClinVar RCV000433652
- ClinVar RCV003766470
- Uncertain significance
- Developmental and epileptic encephalopathy 94; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.46
- MetaLR 0.76
- MetaSVM 0.65
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 94; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)