W111C (p.Trp111Cys) variant of SCN10A (Nav1.8)
W111C (p.Trp111Cys) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
W111C (p.Trp111Cys) variant details
- p.Trp111Cys
- TOPMed rs1043114273
- gnomAD rs1043114273
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.56
- MetaLR 0.84
- MetaSVM 0.82
- CADD 23.60
- PolyPhen-2 0.83
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available