R51G (p.Arg51Gly) variant of GABRB3 (P28472)
R51G (p.Arg51Gly) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 43. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
R51G (p.Arg51Gly) variant details
- p.Arg51Gly
- rs2140199581
- ClinGen CA391465374
- ClinVar RCV002255234
- Ensembl rs2140199581
- Uncertain significance
- Developmental and epileptic encephalopathy, 43
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.67
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 43)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available