P52R (p.Pro52Arg) variant of IKBKB (O14920)
P52R (p.Pro52Arg) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- gnomAD 8-42288683-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.11
- MetaLR 0.16
- MetaSVM -0.91
- CADD 18.80
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available