L104F (p.Leu104Phe) variant of GABRB3 (P28472)
L104F (p.Leu104Phe) 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 0.40 / 1. The record also includes structural context.
L104F (p.Leu104Phe) variant details
- p.Leu104Phe
- rs2140537193
- ClinGen CA391461207
- ClinVar RCV002020198
- Ensembl rs2140537193
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.26
- MetaLR 0.31
- MetaSVM -0.56
- PolyPhen-2 0.04
- SIFT 0.68
- EVE 0.20
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available