L18P (p.Leu18Pro) variant of GABRA1 (P14867)
L18P (p.Leu18Pro) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- rs779065852
- ClinGen CA131082095
- NCI-TCGA Cosmic COSV5011
- cosmic curated COSV50118
- Uncertain significance
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 18.60
- ClinVar: Uncertain significance (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available