Q40Q (p.Gln40Gln) variant of IKBKB (O14920)
Q40Q (p.Gln40Gln) in IKBKB (O14920) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q40Q (p.Gln40Gln) variant details
- p.Gln40Gln
- gnomAD 8-42288648-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 9.96
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available