E81K (p.Glu81Lys) variant of SCN5A (Nav1.5)
E81K (p.Glu81Lys) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- cosmic curated COSV10465
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.10
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available