T288I (p.Thr288Ile) variant of GABRB3 (P28472)
T288I (p.Thr288Ile) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
T288I (p.Thr288Ile) variant details
- p.Thr288Ile
- rs1555401440
- ClinGen CA391462322
- ClinVar RCV000624329
- ClinVar RCV003767831
- Pathogenic/Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic/Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)