P54T (p.Pro54Thr) variant of KCNT1 (Q5JUK3)
P54T (p.Pro54Thr) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P54T (p.Pro54Thr) variant details
- p.Pro54Thr
- rs766901520
- gnomAD 9-135714653-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.18
- MetaLR 0.12
- MetaSVM -1.00
- CADD 24.70
- PolyPhen-2 0.52
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available