P35L (p.Pro35Leu) variant of KCNT1 (Q5JUK3)
P35L (p.Pro35Leu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- rs746315219
- gnomAD 9-135702365-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.04
- CADD 9.03
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available