G50S (p.Gly50Ser) variant of KCNT1 (Q5JUK3)
G50S (p.Gly50Ser) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- TOPMed rs1830359742
- gnomAD rs1830359742
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 17.40
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available