G23R (p.Gly23Arg) variant of GABRA1 (P14867)
G23R (p.Gly23Arg) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- rs1757418419
- ClinGen CA362181226
- cosmic curated COSV50114
- ClinVar RCV003783423
- Uncertain significance
- Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.15
- MetaLR 0.31
- MetaSVM -0.50
- PolyPhen-2 0.86
- SIFT 0.16
- MutPred 0.57
- ClinVar: Uncertain significance (Idiopathic generalized epilepsy; Epilepsy, childhood absence 4;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available