F325L (p.Phe325Leu) variant of GABRA1 (P14867)
F325L (p.Phe325Leu) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
F325L (p.Phe325Leu) variant details
- p.Phe325Leu
- rs1064794681
- ClinGen CA16618158
- NCI-TCGA Cosmic COSV5010
- cosmic curated COSV50104
- Pathogenic
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- AlphaMissense 1.00
- MetaLR 0.80
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available