L53I (p.Leu53Ile) variant of KCNT1 (Q5JUK3)
L53I (p.Leu53Ile) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L53I (p.Leu53Ile) variant details
- p.Leu53Ile
- gnomAD 9-135714602-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.04
- CADD 7.32
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available