S213T (p.Ser213Thr) variant of GABRA1 (P14867)
S213T (p.Ser213Thr) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized, susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
S213T (p.Ser213Thr) variant details
- p.Ser213Thr
- rs1581207094
- ClinGen CA362179557
- ClinVar RCV000819373
- Ensembl rs1581207094
- Likely pathogenic
- Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- AlphaMissense 0.35
- MetaLR 0.61
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.60
- ClinVar: Likely pathogenic (Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available