R125H (p.Arg125His) variant of GABRG2 (P18507)
R125H (p.Arg125His) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.80 / 1. The record also includes population frequency data and structural context.
R125H (p.Arg125His) variant details
- p.Arg125His
- rs2532568719
- NCI-TCGA Cosmic COSV6271
- cosmic curated COSV62716
- NCI-TCGA Cosmic COSV6272
- Likely pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- CADD 29.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available