A303T (p.Ala303Thr) variant of GABRG2 (P18507)
A303T (p.Ala303Thr) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.86 / 1. The record also includes structural context.
A303T (p.Ala303Thr) variant details
- p.Ala303Thr
- rs1581439874
- ClinGen CA362182249
- ClinVar RCV000820812
- Ensembl rs1581439874
- Pathogenic
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.99
- MetaLR 0.83
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available