A39V (p.Ala39Val) variant of KCNT1 (Q5JUK3)
A39V (p.Ala39Val) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- rs772080195
- gnomAD 9-135702362-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.01
- CADD 11.50
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available