V49M (p.Val49Met) variant of KCNT1 (Q5JUK3)
V49M (p.Val49Met) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V49M (p.Val49Met) variant details
- p.Val49Met
- 1000Genomes rs926236598
- TOPMed rs926236598
- gnomAD rs926236598
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 16.80
- Population evidence available
- Structural context available