D53H (p.Asp53His) variant of IRF8 (Interferon regulatory factor 8)
D53H (p.Asp53His) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
D53H (p.Asp53His) variant details
- p.Asp53His
- gnomAD rs1167377783
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available