S2R (p.Ser2Arg) variant of GABRG2 (P18507)
S2R (p.Ser2Arg) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.44 / 1. The record also includes population frequency data and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- rs1581276004
- ClinGen CA362181713
- ClinVar RCV002295237
- Ensembl rs1581276004
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available