G391S (p.Gly391Ser) variant of HCN1 (O60741)
G391S (p.Gly391Ser) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 24; Early-infantile DEE; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G391S (p.Gly391Ser) variant details
- p.Gly391Ser
- rs1561139569
- ClinGen CA359705265
- ClinVar RCV000786049
- ClinVar RCV001731925
- Pathogenic
- Developmental and epileptic encephalopathy, 24; Early-infantile DEE; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.90
- CADD 25.70
- PolyPhen-2 0.47
- SIFT 0.01
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 24; Early-infantile)
- EBI: Pathogenic (in GEFSP10)
- UniProt: Pathogenic (in GEFSP10)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)