A42T (p.Ala42Thr) variant of IKBKB (O14920)
A42T (p.Ala42Thr) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- gnomAD 8-42272260-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0931
- CADD 6.52
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available