R53L (p.Arg53Leu) variant of IKBKB (O14920)
R53L (p.Arg53Leu) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R53L (p.Arg53Leu) variant details
- p.Arg53Leu
- gnomAD 8-42288686-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- MetaLR 0.19
- MetaSVM -0.83
- CADD 23.80
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available