I1537T (p.Ile1537Thr) variant of SCN2A (Nav1.2)
I1537T (p.Ile1537Thr) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Benign familial infantile epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
I1537T (p.Ile1537Thr) variant details
- p.Ile1537Thr
- rs1553463038
- ClinGen CA349036282
- ClinVar RCV001847370
- ClinVar RCV003483838
- Pathogenic
- Benign familial infantile epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Benign familial infantile epilepsy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available