T90R (p.Thr90Arg) variant of SCN8A (Q9UQD0)
T90R (p.Thr90Arg) 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 0.41 / 1. The record also includes structural context.
T90R (p.Thr90Arg) variant details
- p.Thr90Arg
- rs763078635
- ClinGen CA385228585
- ClinVar RCV003754154
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.75
- MetaSVM 0.25
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available