I280F (p.Ile280Phe) variant of GABRB3 (P28472)
I280F (p.Ile280Phe) 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 0.81 / 1. The record also includes structural context.
I280F (p.Ile280Phe) variant details
- p.Ile280Phe
- rs1057518036
- ClinGen CA16042907
- ClinVar RCV000413814
- ClinVar RCV003766150
- Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available