G43D (p.Gly43Asp) variant of KCNT1 (Q5JUK3)
G43D (p.Gly43Asp) in KCNT1 (Q5JUK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G43D (p.Gly43Asp) variant details
- p.Gly43Asp
- gnomAD rs1830358796
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- CADD 18.00
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available