E28K (p.Glu28Lys) variant of KCNT1 (Q5JUK3)
E28K (p.Glu28Lys) 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.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- gnomAD 9-135702340-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.02
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available