E41K (p.Glu41Lys) variant of SCN5A (Nav1.5)
E41K (p.Glu41Lys) in SCN5A (Nav1.5) 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 0.43 / 1. The record also includes population frequency data and structural context.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- rs1260906125
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- gnomAD rs1260906125
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.24
- MetaSVM -0.62
- CADD 19.81
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available