V79F (p.Val79Phe) variant of SCN8A (Nav1.6)
V79F (p.Val79Phe) in SCN8A (Nav1.6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V79F (p.Val79Phe) variant details
- p.Val79Phe
- ExAC rs775593096
- TOPMed rs775593096
- gnomAD rs775593096
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.28
- MetaLR 0.81
- MetaSVM 0.79
- CADD 23.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available