I76F (p.Ile76Phe) variant of SCN4A (Nav1.4)
I76F (p.Ile76Phe) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SCN4A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
I76F (p.Ile76Phe) variant details
- p.Ile76Phe
- rs758181972
- ClinGen CA8710251
- ClinVar RCV004536892
- ExAC rs758181972
- Uncertain significance
- SCN4A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.57
- CADD 23.10
- PolyPhen-2 0.44
- SIFT 0.04
- ClinVar: Uncertain significance (SCN4A-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available