G36S (p.Gly36Ser) variant of GABRG2 (P18507)
G36S (p.Gly36Ser) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G36S (p.Gly36Ser) variant details
- p.Gly36Ser
- rs866056788
- ClinGen CA131108295
- ClinVar RCV000800354
- Ensembl rs866056788
- Uncertain significance
- Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSC)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available