S5F (p.Ser5Phe) variant of SCN4A (Nav1.4)
S5F (p.Ser5Phe) 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 0.54 / 1. The record also includes population frequency data and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- rs1172123779
- gnomAD rs1172123779
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.38
- CADD 24.20
- PolyPhen-2 0.56
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available