R47M (p.Arg47Met) variant of IKBKB (O14920)
R47M (p.Arg47Met) in IKBKB (O14920) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R47M (p.Arg47Met) variant details
- p.Arg47Met
- gnomAD 8-42272231-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0906
- CADD 6.21
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available