S47G (p.Ser47Gly) variant of KCNT1 (Q5JUK3)
S47G (p.Ser47Gly) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- TOPMed rs1290818493
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 19.60
- Most common in the Non-Finnish European population (allele frequency 7e-06)
- Structural context available