P54A (p.Pro54Ala) variant of KCNT1 (Q5JUK3)
P54A (p.Pro54Ala) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P54A (p.Pro54Ala) variant details
- p.Pro54Ala
- gnomAD 9-135714653-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -1.05
- CADD 23.20
- PolyPhen-2 0.34
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available