S8R (p.Ser8Arg) variant of GABRG2 (P18507)
S8R (p.Ser8Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- rs183259247
- ClinGen CA3544640
- ClinVar RCV000370448
- 1000Genomes rs183259247
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available