A42D (p.Ala42Asp) variant of IKBKB (O14920)
A42D (p.Ala42Asp) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A42D (p.Ala42Asp) variant details
- p.Ala42Asp
- gnomAD 8-42272261-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0778
- CADD 4.52
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available