G50D (p.Gly50Asp) variant of KCNT1 (Q5JUK3)
G50D (p.Gly50Asp) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
G50D (p.Gly50Asp) variant details
- p.Gly50Asp
- TOPMed rs1830359885
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 19.30
- Population evidence available
- Structural context available