R47K (p.Arg47Lys) variant of IKBKB (O14920)
R47K (p.Arg47Lys) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R47K (p.Arg47Lys) variant details
- p.Arg47Lys
- rs765044169
- gnomAD 8-42272231-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0951
- CADD 6.72
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available