K127E (p.Lys127Glu) variant of GABRB3 (P28472)
K127E (p.Lys127Glu) 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, 1; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
K127E (p.Lys127Glu) variant details
- p.Lys127Glu
- rs2140536974
- ClinGen CA391460803
- ClinVar RCV001378721
- Ensembl rs2140536974
- Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available