E28del (p.Glu28del) variant of KCNT1 (Q5JUK3)
E28del (p.Glu28del) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E28del (p.Glu28del) variant details
- rs1321537618
- gnomAD 9-135702339-CGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available