A7E (p.Ala7Glu) variant of SCN8A (Q9UQD0)
A7E (p.Ala7Glu) in SCN8A (Q9UQD0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- ESM-1b 0.00
- AlphaMissense 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available