P52L (p.Pro52Leu) variant of IKBKB (O14920)
P52L (p.Pro52Leu) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- rs200992566
- gnomAD 8-42272213-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 7.92
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available