A15A (p.Ala15Ala) variant of KCNT1 (Q5JUK3)
A15A (p.Ala15Ala) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A15A (p.Ala15Ala) variant details
- p.Ala15Ala
- gnomAD 9-135702309-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.55
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available