R3Q (p.Arg3Gln) variant of KCNT1 (Q5JUK3)
R3Q (p.Arg3Gln) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- TOPMed rs1483705202
- gnomAD rs1483705202
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 17.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available