P280Q (p.Pro280Gln) variant of GABRA1 (P14867)
P280Q (p.Pro280Gln) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit. The record also includes structural context.
P280Q (p.Pro280Gln) variant details
- p.Pro280Gln
- cosmic curated COSV50101
- Pathogenic
- Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibilit
- Missense
- ClinVar: Pathogenic (Idiopathic generalized epilepsy; Epilepsy, idiopathic generalize)
- UniProt: Pathogenic
- Structural context available