S51P (p.Ser51Pro) variant of IKBKB (O14920)
S51P (p.Ser51Pro) in IKBKB (O14920) is a missense 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.
S51P (p.Ser51Pro) variant details
- p.Ser51Pro
- gnomAD 8-42272311-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0884
- CADD 5.94
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available