R38L (p.Arg38Leu) variant of SCN4A (Nav1.4)
R38L (p.Arg38Leu) 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 0.38 / 1. The record also includes population frequency data and structural context.
R38L (p.Arg38Leu) variant details
- p.Arg38Leu
- ExAC rs772546656
- TOPMed rs772546656
- gnomAD rs772546656
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.28
- CADD 15.90
- PolyPhen-2 0.04
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available