M1V (p.Met1Val) variant of GABRG2 (P18507)
M1V (p.Met1Val) 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 0.37 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1581275976
- ClinGen CA362181699
- ClinVar RCV000987628
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- MetaLR 0.33
- MetaSVM -0.43
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available