L36Q (p.Leu36Gln) variant of KCNT1 (Q5JUK3)
L36Q (p.Leu36Gln) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L36Q (p.Leu36Gln) variant details
- p.Leu36Gln
- Ensembl rs1830357854
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 16.50
- Most common in the Non-Finnish European population (allele frequency 6.9e-06)
- Structural context available