L6P (p.Leu6Pro) variant of KCNT1 (Q5JUK3)
L6P (p.Leu6Pro) in KCNT1 (Q5JUK3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- gnomAD 9-135702264-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available