I72N (p.Ile72Asn) variant of SCN8A (Nav1.6)
I72N (p.Ile72Asn) 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 0.73 / 1. The record also includes structural context.
I72N (p.Ile72Asn) variant details
- p.Ile72Asn
- NCI-TCGA Cosmic COSV6199
- cosmic curated COSV61994
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.86
- MetaSVM 0.88
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available