M80I (p.Met80Ile) variant of GABRB3 (P28472)
M80I (p.Met80Ile) in GABRB3 (P28472) 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, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
M80I (p.Met80Ile) variant details
- p.Met80Ile
- rs2140199021
- ClinGen CA391465158
- ClinVar RCV001904970
- Ensembl rs2140199021
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.76
- CADD 33.00
- PolyPhen-2 0.48
- SIFT 0.00
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available