K304R (p.Lys304Arg) variant of GABRB3 (P28472)
K304R (p.Lys304Arg) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
K304R (p.Lys304Arg) variant details
- p.Lys304Arg
- rs1889966043
- ClinGen CA391462122
- ClinVar RCV001300092
- ClinVar RCV001358688
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 0.83
- MetaLR 0.73
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 43; Epilepsy, childh)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available