E12K (p.Glu12Lys) variant of KCNT1 (Q5JUK3)
E12K (p.Glu12Lys) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- TOPMed rs1315899184
- gnomAD rs1315899184
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 17.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available