E28D (p.Glu28Asp) variant of KCNT1 (Q5JUK3)
E28D (p.Glu28Asp) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- gnomAD 9-135702342-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.05
- CADD 15.90
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available