L58S (p.Leu58Ser) variant of SCN4A (Nav1.4)
L58S (p.Leu58Ser) in SCN4A (Nav1.4) 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 0.75 / 1. The record also includes population frequency data and structural context.
L58S (p.Leu58Ser) variant details
- p.Leu58Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.84
- CADD 26.90
- PolyPhen-2 0.52
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available