R363Q (p.Arg363Gln) variant of GABRG2 (P18507)
R363Q (p.Arg363Gln) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.71 / 1. The record also includes population frequency data and structural context.
R363Q (p.Arg363Gln) variant details
- p.Arg363Gln
- rs780199000
- ClinGen CA314775
- NCI-TCGA Cosmic COSV6272
- cosmic curated COSV62721
- Likely benign
- not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizure
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 23.40
- PolyPhen-2 0.08
- SIFT 0.34
- ClinVar: Likely benign (not provided; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available