T4I (p.Thr4Ile) variant of SCN1A (P35498)
T4I (p.Thr4Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- rs374317182
- ClinGen CA1943575
- cosmic curated COSV57666
- ClinVar RCV006563846
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available