P52A (p.Pro52Ala) variant of IKBKB (O14920)
P52A (p.Pro52Ala) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- ExAC rs774165537
- gnomAD rs774165537
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.06
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available