L6F (p.Leu6Phe) variant of KCNT1 (Q5JUK3)
L6F (p.Leu6Phe) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- gnomAD 9-135702265-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.06
- CADD 10.80
- PolyPhen-2 0.27
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available