A39T (p.Ala39Thr) variant of KCNT1 (Q5JUK3)
A39T (p.Ala39Thr) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- rs751166469
- gnomAD 9-135702361-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0516
- REVEL 0.03
- CADD 3.33
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available