T314S (p.Thr314Ser) variant of GABRG2 (P18507)
T314S (p.Thr314Ser) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
T314S (p.Thr314Ser) variant details
- p.Thr314Ser
- rs2113632555
- ClinGen CA362182330
- ClinVar RCV002026879
- Ensembl rs2113632555
- Pathogenic
- Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.97
- MetaLR 0.71
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.33
- ClinVar: Pathogenic (Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSC)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available