K5E (p.Lys5Glu) variant of KCNT1 (Q5JUK3)
K5E (p.Lys5Glu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- TOPMed rs1830353289
- gnomAD rs1830353289
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 18.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available