R214S (p.Arg214Ser) variant of GABRA1 (P14867)
R214S (p.Arg214Ser) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
R214S (p.Arg214Ser) variant details
- p.Arg214Ser
- rs727503940
- ClinGen CA203588
- NCI-TCGA Cosmic COSV5011
- cosmic curated COSV50119
- Conflicting interpretations
- Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs
- 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: Conflicting classifications of pathogenicity (Epilepsy, idiopathic generalized, susceptibility to, 13; Epileps)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available