L53M (p.Leu53Met) variant of KCNT1 (Q5JUK3)
L53M (p.Leu53Met) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L53M (p.Leu53Met) variant details
- p.Leu53Met
- gnomAD 9-135714605-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.05
- CADD 14.50
- PolyPhen-2 0.35
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available