L7R (p.Leu7Arg) variant of IKBKB (O14920)
L7R (p.Leu7Arg) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- gnomAD 8-42272120-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.33
- MetaLR 0.21
- MetaSVM -0.87
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available