L6I (p.Leu6Ile) variant of KCNT1 (Q5JUK3)
L6I (p.Leu6Ile) 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.
L6I (p.Leu6Ile) variant details
- p.Leu6Ile
- gnomAD 9-135702265-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.04
- CADD 14.20
- PolyPhen-2 0.10
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available