A2T (p.Ala2Thr) variant of SCN8A (Q9UQD0)
A2T (p.Ala2Thr) in SCN8A (Q9UQD0) 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 0.58 / 1. The record also includes structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs2138670848
- ClinGen CA385227385
- ClinVar RCV002016465
- Ensembl rs2138670848
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- ESM-1b 0.00
- AlphaMissense 0.63
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available