G42E (p.Gly42Glu) variant of KCNT1 (Q5JUK3)
G42E (p.Gly42Glu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
G42E (p.Gly42Glu) variant details
- p.Gly42Glu
- TOPMed rs1830358681
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.04
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available