K127R (p.Lys127Arg) variant of GABRB3 (P28472)
K127R (p.Lys127Arg) 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, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
K127R (p.Lys127Arg) variant details
- p.Lys127Arg
- rs1057519201
- ClinGen CA16043848
- ClinVar RCV000416050
- ClinVar RCV000540777
- Conflicting interpretations
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.58
- MetaLR 0.68
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.42
- ClinVar: Conflicting classifications of pathogenicity (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available