A20P (p.Ala20Pro) variant of KCNT1 (Q5JUK3)
A20P (p.Ala20Pro) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- TOPMed rs1161445367
- gnomAD rs1161445367
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 13.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available