A39S (p.Ala39Ser) variant of KCNT1 (Q5JUK3)
A39S (p.Ala39Ser) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- rs751166469
- gnomAD 9-135702361-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0936
- REVEL 0.01
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -0.90
- CADD 3.06
- PolyPhen-2 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available