P54L (p.Pro54Leu) variant of KCNT1 (Q5JUK3)
P54L (p.Pro54Leu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- gnomAD 9-135714654-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.21
- MetaLR 0.19
- MetaSVM -0.91
- CADD 26.00
- PolyPhen-2 0.78
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available