A39P (p.Ala39Pro) variant of KCNT1 (Q5JUK3)
A39P (p.Ala39Pro) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A39P (p.Ala39Pro) variant details
- p.Ala39Pro
- gnomAD 9-135714599-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- CADD 11.70
- PolyPhen-2 0.12
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available