M80L (p.Met80Leu) variant of GABRB3 (P28472)
M80L (p.Met80Leu) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
M80L (p.Met80Leu) variant details
- p.Met80Leu
- rs72708067
- ClinGen CA391465162
- ClinVar RCV003805008
- Pathogenic
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.99
- MetaLR 0.69
- MetaSVM 0.63
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available