G18V (p.Gly18Val) variant of KCNT1 (Q5JUK3)
G18V (p.Gly18Val) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- TOPMed rs1303158281
- gnomAD rs1303158281
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 16.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available