A42A (p.Ala42Ala) variant of IKBKB (O14920)
A42A (p.Ala42Ala) in IKBKB (O14920) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A42A (p.Ala42Ala) variant details
- p.Ala42Ala
- rs757629567
- gnomAD 8-42272262-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.116
- CADD 4.94
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available