T310I (p.Thr310Ile) variant of GABRG2 (P18507)
T310I (p.Thr310Ile) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
T310I (p.Thr310Ile) variant details
- p.Thr310Ile
- rs2113632484
- ClinGen CA362182309
- cosmic curated COSV62716
- ClinVar RCV002013769
- Pathogenic
- Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 0.99
- MetaLR 0.86
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic (Febrile seizures, familial, 8; EPILEPSY, CHILDHOOD ABSENCE, SUSC)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available