A30T (p.Ala30Thr) variant of SCN8A (Q9UQD0)
A30T (p.Ala30Thr) 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 0.48 / 1. The record also includes structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- rs2138671059
- ClinGen CA385227654
- ClinVar RCV001892406
- Ensembl rs2138671059
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.85
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available