G257R (p.Gly257Arg) variant of GABRG2 (P18507)
G257R (p.Gly257Arg) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizure. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G257R (p.Gly257Arg) variant details
- p.Gly257Arg
- rs1554098235
- ClinGen CA362185265
- NCI-TCGA Cosmic COSV1007
- NCI-TCGA Cosmic COSV6272
- Pathogenic/Likely pathogenic
- not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 34.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available