E56R (p.Glu56Arg) variant of KCNT1 (Q5JUK3)
E56R (p.Glu56Arg) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E56R (p.Glu56Arg) variant details
- p.Glu56Arg
- gnomAD 9-135714641-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available