L104P (p.Leu104Pro) variant of GABRB3 (P28472)
L104P (p.Leu104Pro) 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 0.45 / 1. The record also includes structural context.
L104P (p.Leu104Pro) variant details
- p.Leu104Pro
- rs2140537185
- ClinGen CA391461202
- ClinVar RCV002038815
- Ensembl rs2140537185
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.91
- MetaLR 0.45
- MetaSVM -0.14
- PolyPhen-2 0.98
- SIFT 0.20
- EVE 0.21
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available