E28E (p.Glu28Glu) variant of KCNT1 (Q5JUK3)
E28E (p.Glu28Glu) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- gnomAD 9-135702342-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 6.48
- Population evidence available
- Structural context available
- Literature evidence available