V74L (p.Val74Leu) variant of IKBKB (O14920)
V74L (p.Val74Leu) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V74L (p.Val74Leu) variant details
- p.Val74Leu
- gnomAD 8-42290175-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.54
- MetaLR 0.37
- MetaSVM -0.35
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available