E12G (p.Glu12Gly) variant of KCNT1 (Q5JUK3)
E12G (p.Glu12Gly) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E12G (p.Glu12Gly) variant details
- p.Glu12Gly
- gnomAD 9-135702301-CGG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available