P282S (p.Pro282Ser) variant of GABRG2 (P18507)
P282S (p.Pro282Ser) 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 0.93 / 1. The record also includes published literature and structural context.
P282S (p.Pro282Ser) variant details
- p.Pro282Ser
- rs796052508
- ClinGen CA314726
- ClinVar RCV000767870
- ClinVar RCV001249644
- Pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Pathogenic (in DEE74)
- UniProt: Pathogenic (in DEE74)
- Structural context available
- Cited in: De novo GABRG2 mutations associated with epileptic encephalopathies. (PMID 27864268)