S34R (p.Ser34Arg) variant of KCNT1 (Q5JUK3)
S34R (p.Ser34Arg) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S34R (p.Ser34Arg) variant details
- p.Ser34Arg
- TOPMed rs1210099687
- gnomAD rs1210099687
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available