P27S (p.Pro27Ser) variant of KCNT1 (Q5JUK3)
P27S (p.Pro27Ser) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- gnomAD rs1356883613
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 13.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available