S20L (p.Ser20Leu) variant of CHD2 (O14647)
S20L (p.Ser20Leu) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S20L (p.Ser20Leu) variant details
- p.Ser20Leu
- rs1057524801
- ClinGen CA393892457
- ClinVar RCV001500601
- gnomAD rs1057524801
- Likely benign
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.41
- MetaLR 0.71
- MetaSVM 0.42
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.17
- ClinVar: Likely benign (Developmental and epileptic encephalopathy 94)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)