F92S (p.Phe92Ser) variant of GABRA1 (P14867)
F92S (p.Phe92Ser) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
F92S (p.Phe92Ser) variant details
- p.Phe92Ser
- rs2113380903
- ClinGen CA362178699
- ClinVar RCV002004390
- Ensembl rs2113380903
- Pathogenic
- Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.99
- MetaLR 0.74
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Epilepsy, idiopathic generalized, susceptibility to, 13; Epileps)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available