I306T (p.Ile306Thr) variant of GABRB3 (P28472)
I306T (p.Ile306Thr) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.86 / 1. The record also includes structural context.
I306T (p.Ile306Thr) variant details
- p.Ile306Thr
- rs1889965425
- ClinGen CA391462095
- ClinVar RCV001216219
- Ensembl rs1889965425
- Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 0.96
- MetaLR 0.84
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available