I1455N (p.Ile1455Asn) variant of SCN2A (Nav1.2)
I1455N (p.Ile1455Asn) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of West syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
I1455N (p.Ile1455Asn) variant details
- p.Ile1455Asn
- rs2105384629
- ClinGen CA349033861
- ClinVar RCV001847343
- Ensembl rs2105384629
- Pathogenic
- West syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.96
- MetaSVM 1.12
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Pathogenic (West syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available