N110H (p.Asn110His) variant of GABRB3 (P28472)
N110H (p.Asn110His) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
N110H (p.Asn110His) variant details
- p.Asn110His
- Ensembl rs767830097
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.72
- AlphaMissense 0.79
- MetaLR 0.56
- MetaSVM 0.15
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available