F42L (p.Phe42Leu) variant of GABRA1 (P14867)
F42L (p.Phe42Leu) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
F42L (p.Phe42Leu) variant details
- p.Phe42Leu
- rs2113307162
- ClinGen CA362181549
- ClinVar RCV001376940
- Ensembl rs2113307162
- Likely pathogenic
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 0.99
- MetaLR 0.47
- MetaSVM -0.19
- PolyPhen-2 1.00
- SIFT 0.17
- EVE 0.33
- ClinVar: Likely pathogenic (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available