L53Q (p.Leu53Gln) variant of KCNT1 (Q5JUK3)
L53Q (p.Leu53Gln) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L53Q (p.Leu53Gln) variant details
- p.Leu53Gln
- gnomAD 9-135714606-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0902
- REVEL 0.05
- CADD 10.00
- PolyPhen-2 0.27
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available