K58K (p.Lys58Lys) variant of IRF8 (Interferon regulatory factor 8)
K58K (p.Lys58Lys) in IRF8 (Interferon regulatory factor 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
K58K (p.Lys58Lys) variant details
- p.Lys58Lys
- rs1904882373
- gnomAD 16-85903189-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 24.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available