D120N (p.Asp120Asn) variant of GABRB3 (P28472)
D120N (p.Asp120Asn) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
D120N (p.Asp120Asn) variant details
- p.Asp120Asn
- rs886037938
- ClinGen CA10586387
- NCI-TCGA Cosmic COSV5465
- NCI-TCGA Cosmic COSV5466
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 43; Epilepsy, childh)
- EBI: Pathogenic (in DEE43)
- UniProt: Pathogenic (in DEE43)
- Structural context available
- Cited in: De novo mutations in epileptic encephalopathies. (PMID 23934111)
- Cited in: Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. (PMID 26950270)