G27E (p.Gly27Glu) variant of GABRA1 (P14867)
G27E (p.Gly27Glu) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
G27E (p.Gly27Glu) variant details
- p.Gly27Glu
- rs866861998
- ClinGen CA131082509
- ClinVar RCV000768228
- ClinVar RCV005213388
- Uncertain significance
- Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epile
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.15
- MetaLR 0.21
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.35
- ClinVar: Uncertain significance (Epilepsy, idiopathic generalized, susceptibility to, 13; Develop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available