E31K (p.Glu31Lys) variant of IRF8 (Interferon regulatory factor 8)
E31K (p.Glu31Lys) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- gnomAD 16-85903106-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.43
- CADD 25.20
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available