P52T (p.Pro52Thr) variant of IKBKB (O14920)
P52T (p.Pro52Thr) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
P52T (p.Pro52Thr) variant details
- p.Pro52Thr
- rs759102113
- gnomAD 8-42272248-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0448
- CADD 0.55
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available