Q1489H (p.Gln1489His) variant of SCN1A (Nav1.1)
Q1489H (p.Gln1489His) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of in FHM3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Q1489H (p.Gln1489His) variant details
- p.Gln1489His
- rs121918633
- ClinGen CA256623
- ClinVar RCV000013766
- UniProt VAR 057996
- Pathogenic
- in FHM3
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic (Migraine, familial hemiplegic, 3)
- EBI: Pathogenic (in FHM3)
- UniProt: Pathogenic (in FHM3)
- Structural context available
- Cited in: Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy. (PMID 15277634)
- Cited in: Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. (PMID 19332696)