P27R (p.Pro27Arg) variant of KCNT1 (Q5JUK3)
P27R (p.Pro27Arg) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- TOPMed rs1014352531
- gnomAD rs1014352531
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 13.10
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available