P54H (p.Pro54His) variant of KCNT1 (Q5JUK3)
P54H (p.Pro54His) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P54H (p.Pro54His) variant details
- p.Pro54His
- gnomAD 9-135714654-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.19
- MetaLR 0.21
- MetaSVM -0.88
- CADD 25.70
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available