D47N (p.Asp47Asn) variant of SCN8A (Nav1.6)
D47N (p.Asp47Asn) in SCN8A (Nav1.6) 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 0.37 / 1. The record also includes structural context.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.78
- MetaSVM 0.57
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available