E85A (p.Glu85Ala) variant of HCN1 (O60741)
E85A (p.Glu85Ala) in HCN1 (O60741) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in GEFSP10. The record also includes published literature and structural context.
E85A (p.Glu85Ala) variant details
- p.Glu85Ala
- UniProt VAR 082653
- Uncertain significance
- in GEFSP10
- Missense
- EBI: Variant of uncertain significance (in GEFSP10)
- UniProt: Uncertain significance (in GEFSP10)
- Structural context available
- Cited in: HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. (PMID 30351409)
- Cited in: A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability. (PMID 29936235)