E29K (p.Glu29Lys) variant of SCN9A (Nav1.7)
E29K (p.Glu29Lys) in SCN9A (Nav1.7) 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 0.70 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- rs1210104999
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10031
- gnomAD rs1210104999
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.09
- MetaLR 0.94
- MetaSVM 1.07
- SIFT 0.00
- MutPred 0.43
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available