M22R (p.Met22Arg) variant of IRF8 (Interferon regulatory factor 8)
M22R (p.Met22Arg) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M22R (p.Met22Arg) variant details
- p.Met22Arg
- gnomAD 16-85903080-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.52
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available