S325L (p.Ser325Leu) variant of GABRG2 (P18507)
S325L (p.Ser325Leu) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.74 / 1. The record also includes structural context.
S325L (p.Ser325Leu) variant details
- p.Ser325Leu
- rs1581453572
- ClinGen CA362182403
- NCI-TCGA Cosmic COSV6271
- cosmic curated COSV62717
- Pathogenic/Likely pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.85
- MetaLR 0.81
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Pathogenic/Likely pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available