P54Q (p.Pro54Gln) variant of KCNT1 (Q5JUK3)
P54Q (p.Pro54Gln) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P54Q (p.Pro54Gln) variant details
- p.Pro54Gln
- gnomAD 9-135714660-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.08
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available