K31E (p.Lys31Glu) variant of SCN5A (Nav1.5)
K31E (p.Lys31Glu) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- rs1553607623
- ClinGen CA352159018
- ClinVar RCV004015482
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 38.00
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available