A39G (p.Ala39Gly) variant of KCNT1 (Q5JUK3)
A39G (p.Ala39Gly) in KCNT1 (Q5JUK3) is a protein-truncating 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.
A39G (p.Ala39Gly) variant details
- p.Ala39Gly
- rs1238908622
- gnomAD 9-135714584-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.236
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available