S6F (p.Ser6Phe) variant of IKBKB (O14920)
S6F (p.Ser6Phe) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- Ensembl rs1585485440
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.31
- CADD 22.50
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available