C46C (p.Cys46Cys) variant of IKBKB (O14920)
C46C (p.Cys46Cys) in IKBKB (O14920) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
C46C (p.Cys46Cys) variant details
- p.Cys46Cys
- gnomAD 8-42272220-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 8.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available