E279K (p.Glu279Lys) variant of ATP1A3 (P13637)
E279K (p.Glu279Lys) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E279K (p.Glu279Lys) variant details
- p.Glu279Lys
- TOPMed rs1333580568
- gnomAD rs1333580568
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 24.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available