G354V (p.Gly354Val) variant of GABRG2 (P18507)
G354V (p.Gly354Val) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 74; Febrile seizures, familial, 8; E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
G354V (p.Gly354Val) variant details
- p.Gly354Val
- rs1060501888
- ClinGen CA16612028
- ClinVar RCV000467084
- ClinVar RCV002272242
- Likely pathogenic
- Developmental and epileptic encephalopathy, 74; Febrile seizures, familial, 8; E
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 0.98
- MetaLR 0.62
- MetaSVM 0.36
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.15
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 74; Febrile seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available