I27V (p.Ile27Val) variant of GABRG2 (P18507)
I27V (p.Ile27Val) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.36 / 1. The record also includes population frequency data and structural context.
I27V (p.Ile27Val) variant details
- p.Ile27Val
- rs766990192
- ClinGen CA3544645
- ClinVar RCV001034521
- ExAC rs766990192
- Likely benign
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Likely benign (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available