R214H (p.Arg214His) variant of GABRA1 (P14867)
R214H (p.Arg214His) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.61 / 1. The record also includes structural context.
R214H (p.Arg214His) variant details
- p.Arg214His
- rs886039373
- ClinGen CA10588398
- ClinVar RCV000254956
- ClinVar RCV000417089
- Pathogenic/Likely pathogenic
- Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epile
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.39
- MetaLR 0.62
- MetaSVM 0.30
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Pathogenic/Likely pathogenic (Epilepsy, idiopathic generalized, susceptibility to, 13; Develop)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available