I1631T (p.Ile1631Thr) variant of SCN8A (Nav1.6)
I1631T (p.Ile1631Thr) in SCN8A (Nav1.6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
I1631T (p.Ile1631Thr) variant details
- p.Ile1631Thr
- rs1085307999
- ClinGen CA384880453
- ClinVar RCV000851494
- ClinVar RCV001858503
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)
- Cited in: Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a… (PMID 34131312)