T90M (p.Thr90Met) variant of SCN8A (Q9UQD0)
T90M (p.Thr90Met) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SCN8A-related disorder; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
T90M (p.Thr90Met) variant details
- p.Thr90Met
- rs763078635
- ClinGen CA6571015
- cosmic curated COSV61995
- ClinVar RCV001070120
- Uncertain significance
- SCN8A-related disorder; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.52
- ESM-1b 0.50
- AlphaMissense 0.28
- MetaLR 0.75
- MetaSVM 0.25
- CADD 23.20
- ClinVar: Uncertain significance (SCN8A-related disorder; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available