K1591I (p.Lys1591Ile) variant of SCN1A (Nav1.1)
K1591I (p.Lys1591Ile) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Migraine, familial hemiplegic, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
K1591I (p.Lys1591Ile) variant details
- p.Lys1591Ile
- rs1689685377
- ClinGen CA349071598
- ClinVar RCV001198758
- Ensembl rs1689685377
- Pathogenic
- Migraine, familial hemiplegic, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Migraine, familial hemiplegic, 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)