S51* (p.Ser51Ter) variant of IKBKB (O14920)
S51* (p.Ser51Ter) in IKBKB (O14920) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S51* (p.Ser51Ter) variant details
- p.Ser51Ter
- gnomAD 8-42272312-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0897
- CADD 1.28
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available