K328M (p.Lys328Met) variant of GABRG2 (P18507)
K328M (p.Lys328Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
K328M (p.Lys328Met) variant details
- p.Lys328Met
- rs121909672
- ClinGen CA126265
- ClinVar RCV000017591
- UniProt VAR 014266
- Pathogenic
- Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 0.95
- MetaLR 0.82
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Febrile seizures, familial, 8)
- EBI: Pathogenic (in GEFSP3)
- UniProt: Pathogenic (in GEFSP3)
- Structural context available
- Cited in: First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. (PMID 11326274)
- Cited in: Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized… (PMID 16510738)