L7R (p.Leu7Arg) variant of GABRA1 (P14867)
L7R (p.Leu7Arg) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- rs1757415562
- ClinGen CA362181038
- ClinVar RCV003009523
- Uncertain significance
- Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.16
- MetaLR 0.27
- MetaSVM -0.56
- PolyPhen-2 0.42
- SIFT 0.00
- MutPred 0.56
- ClinVar: Uncertain significance (Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available