K46Q (p.Lys46Gln) variant of GABRB3 (P28472)
K46Q (p.Lys46Gln) 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, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K46Q (p.Lys46Gln) variant details
- p.Lys46Gln
- rs1057520112
- ClinGen CA16603241
- ClinVar RCV000428980
- ClinVar RCV002524718
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.31
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.19
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available