G30S (p.Gly30Ser) variant of CHD2 (O14647)
G30S (p.Gly30Ser) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- rs1243119782
- ClinGen CA393895932
- ClinVar RCV003582248
- gnomAD rs1243119782
- Uncertain significance
- Developmental and epileptic encephalopathy 94
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.12
- MetaLR 0.45
- MetaSVM -0.20
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.06
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 94)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: CHD2-Related Neurodevelopmental Disorders. (PMID 26677509)