I227T (p.Ile227Thr) variant of SCN1A (Nav1.1)
I227T (p.Ile227Thr) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Migraine, familial hemiplegic, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
I227T (p.Ile227Thr) variant details
- p.Ile227Thr
- rs121917937
- ClinGen CA349074069
- ClinVar RCV001195991
- ClinVar RCV002280166
- Pathogenic/Likely pathogenic
- not provided; Migraine, familial hemiplegic, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- CADD 19.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Migraine, familial hemiplegic, 3)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Genotype-phenotype associations in SCN1A-related epilepsies. (PMID 21248271)
- Cited in: Familial Hemiplegic Migraine. (PMID 20301562)