I29T (p.Ile29Thr) variant of SCN1A (P35498)
I29T (p.Ile29Thr) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
I29T (p.Ile29Thr) variant details
- p.Ile29Thr
- rs773935383
- ClinGen CA60270531
- ClinVar RCV001760997
- ClinVar RCV006467867
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.22
- MetaLR 0.92
- MetaSVM 1.00
- PolyPhen-2 0.26
- SIFT 0.00
- EVE 0.33
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available