S51L (p.Ser51Leu) variant of IKBKB (O14920)
S51L (p.Ser51Leu) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
S51L (p.Ser51Leu) variant details
- p.Ser51Leu
- gnomAD 8-42272312-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0541
- CADD 1.69
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available