T89I (p.Thr89Ile) variant of SCN1A (P35498)
T89I (p.Thr89Ile) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
T89I (p.Thr89Ile) variant details
- p.Thr89Ile
- rs1574302474
- ClinGen CA349077319
- ClinVar RCV006265301
- ClinVar RCV006464393
- Uncertain significance
- Early-infantile DEE; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 0.87
- MetaLR 0.94
- MetaSVM 1.13
- PolyPhen-2 0.73
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (Early-infantile DEE; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available