S306F (p.Ser306Phe) variant of GABRG2 (P18507)
S306F (p.Ser306Phe) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
S306F (p.Ser306Phe) variant details
- p.Ser306Phe
- rs2113599212
- ClinGen CA362182271
- ClinVar RCV002047455
- Ensembl rs2113599212
- Pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.70
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.46
- ClinVar: Pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available