G43G (p.Gly43Gly) variant of KCNT1 (Q5JUK3)
G43G (p.Gly43Gly) in KCNT1 (Q5JUK3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G43G (p.Gly43Gly) variant details
- p.Gly43Gly
- rs1835643705
- gnomAD 9-135714598-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 9.73
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available
- Literature evidence available