E28Q (p.Glu28Gln) variant of KCNT1 (Q5JUK3)
E28Q (p.Glu28Gln) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- rs1564304784
- gnomAD 9-135702340-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.02
- AlphaMissense 0.15
- MetaLR 0.10
- MetaSVM -1.01
- CADD 15.50
- PolyPhen-2 0.10
- Population evidence available
- Structural context available
- Literature evidence available