C62G (p.Cys62Gly) variant of GABRB3 (P28472)
C62G (p.Cys62Gly) 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, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
C62G (p.Cys62Gly) variant details
- p.Cys62Gly
- rs1595363628
- ClinGen CA391465290
- ClinVar RCV000823421
- Ensembl rs1595363628
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.05
- MetaLR 0.17
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.34
- EVE 0.07
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available