E29* (p.Glu29Ter) variant of SCN9A (Nav1.7)
E29* (p.Glu29Ter) in SCN9A (Nav1.7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
E29* (p.Glu29Ter) variant details
- p.Glu29Ter
- gnomAD rs1210104999
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.09
- MetaLR 0.94
- MetaSVM 1.07
- CADD 36.00
- SIFT 0.00
- MutPred 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available