P38L (p.Pro38Leu) variant of KCNT1 (Q5JUK3)
P38L (p.Pro38Leu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- 1000Genomes rs547964274
- TOPMed rs547964274
- gnomAD rs547964274
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 16.60
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available