A39D (p.Ala39Asp) variant of KCNT1 (Q5JUK3)
A39D (p.Ala39Asp) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- rs772080195
- gnomAD 9-135702362-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.02
- AlphaMissense 0.35
- MetaLR 0.47
- MetaSVM -0.11
- CADD 15.50
- PolyPhen-2 0.68
- Population evidence available
- Structural context available
- Literature evidence available