R232P (p.Arg232Pro) variant of GABRB3 (P28472)
R232P (p.Arg232Pro) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy, childhood absence, susceptibility to, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
R232P (p.Arg232Pro) variant details
- p.Arg232Pro
- rs797045045
- ClinGen CA250348
- ClinVar RCV000191088
- Ensembl rs797045045
- Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 5)
- EBI: Pathogenic (found in patients with Dravet syndrome)
- UniProt: Pathogenic (found in patients with Dravet syndrome)
- Structural context available