V49L (p.Val49Leu) variant of KCNT1 (Q5JUK3)
V49L (p.Val49Leu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- 1000Genomes rs926236598
- TOPMed rs926236598
- gnomAD rs926236598
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 16.50
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available