R82L (p.Arg82Leu) variant of GABRG2 (P18507)
R82L (p.Arg82Leu) 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 0.85 / 1. The record also includes structural context.
R82L (p.Arg82Leu) variant details
- p.Arg82Leu
- rs121909673
- ClinGen CA362183132
- ClinVar RCV003794979
- Likely pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.95
- MetaLR 0.82
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Likely pathogenic (in ECA2 and FEB8)
- UniProt: Likely pathogenic (in ECA2 and FEB8)
- Structural context available