P38S (p.Pro38Ser) variant of KCNT1 (Q5JUK3)
P38S (p.Pro38Ser) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- TOPMed rs1231396213
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 16.60
- Most common in the Non-Finnish European population (allele frequency 6.9e-06)
- Structural context available