R8Q (p.Arg8Gln) variant of IRF8 (Interferon regulatory factor 8)
R8Q (p.Arg8Gln) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- cosmic curated COSV51896
- TOPMed rs762945281
- gnomAD rs762945281
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.74
- CADD 26.00
- PolyPhen-2 0.76
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available