L6L (p.Leu6Leu) variant of KCNT1 (Q5JUK3)
L6L (p.Leu6Leu) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- rs768423949
- gnomAD 9-135702267-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0937
- CADD 1.84
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available