R47G (p.Arg47Gly) variant of IKBKB (O14920)
R47G (p.Arg47Gly) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R47G (p.Arg47Gly) variant details
- p.Arg47Gly
- gnomAD 8-42272230-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 10.20
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available