R214C (p.Arg214Cys) variant of GABRA1 (P14867)
R214C (p.Arg214Cys) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.43 / 1. The record also includes structural context.
R214C (p.Arg214Cys) variant details
- p.Arg214Cys
- rs727503940
- ClinGen CA10588397
- NCI-TCGA Cosmic COSV5011
- NCI-TCGA Cosmic COSV9919
- Pathogenic/Likely pathogenic
- Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.89
- MetaLR 0.41
- MetaSVM -0.25
- PolyPhen-2 1.00
- SIFT 0.35
- EVE 0.20
- ClinVar: Pathogenic/Likely pathogenic (Idiopathic generalized epilepsy; Epilepsy, childhood absence 4;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available