M80R (p.Met80Arg) variant of GABRB3 (P28472)
M80R (p.Met80Arg) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
M80R (p.Met80Arg) variant details
- p.Met80Arg
- rs1064794797
- ClinGen CA391465159
- ClinVar RCV000677391
- ClinVar RCV001308777
- Conflicting interpretations
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.98
- MetaLR 0.70
- MetaSVM 0.62
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.72
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available