A39E (p.Ala39Glu) variant of KCNT1 (Q5JUK3)
A39E (p.Ala39Glu) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A39E (p.Ala39Glu) variant details
- p.Ala39Glu
- gnomAD 9-135714588-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.06
- CADD 9.88
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available