A39A (p.Ala39Ala) variant of KCNT1 (Q5JUK3)
A39A (p.Ala39Ala) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A39A (p.Ala39Ala) variant details
- p.Ala39Ala
- rs1835067925
- gnomAD 9-135702363-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 6.73
- Population evidence available
- Structural context available
- Literature evidence available