P4S (p.Pro4Ser) variant of SCN4A (Nav1.4)
P4S (p.Pro4Ser) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P4S (p.Pro4Ser) variant details
- p.Pro4Ser
- TOPMed rs1422062004
- gnomAD rs1422062004
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.22
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available