S100F (p.Ser100Phe) variant of HCN1 (O60741)
S100F (p.Ser100Phe) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 10; Early-infantile DEE; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S100F (p.Ser100Phe) variant details
- p.Ser100Phe
- rs587777492
- ClinGen CA163272
- NCI-TCGA Cosmic COSV5751
- cosmic curated COSV57516
- Pathogenic/Likely pathogenic
- Generalized epilepsy with febrile seizures plus, type 10; Early-infantile DEE; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.86
- CADD 25.80
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Generalized epilepsy with febrile seizures plus, type 10; Early-)
- EBI: Pathogenic (in DEE24)
- UniProt: Pathogenic (in DEE24)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: De novo mutations in HCN1 cause early infantile epileptic encephalopathy. (PMID 24747641)
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)