I30L (p.Ile30Leu) variant of IKBKB (O14920)
I30L (p.Ile30Leu) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I30L (p.Ile30Leu) variant details
- p.Ile30Leu
- gnomAD 8-42272188-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.25
- MetaLR 0.05
- MetaSVM -1.09
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available