L50H (p.Leu50His) variant of IKBKB (O14920)
L50H (p.Leu50His) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L50H (p.Leu50His) variant details
- p.Leu50His
- rs756678740
- gnomAD 8-42272252-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0809
- CADD 5.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available