I76V (p.Ile76Val) variant of SCN4A (Nav1.4)
I76V (p.Ile76Val) in SCN4A (Nav1.4) 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 0.29 / 1. The record also includes population frequency data and structural context.
I76V (p.Ile76Val) variant details
- p.Ile76Val
- ExAC rs758181972
- TOPMed rs758181972
- gnomAD rs758181972
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.28
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.92
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available