A300T (p.Ala300Thr) variant of GABRG2 (P18507)
A300T (p.Ala300Thr) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.76 / 1. The record also includes structural context.
A300T (p.Ala300Thr) variant details
- p.Ala300Thr
- rs2113599106
- ClinGen CA362182232
- ClinVar RCV002028783
- Ensembl rs2113599106
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.95
- MetaLR 0.82
- MetaSVM 0.75
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.44
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available