N5I (p.Asn5Ile) variant of IRF8 (Interferon regulatory factor 8)
N5I (p.Asn5Ile) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N5I (p.Asn5Ile) variant details
- p.Asn5Ile
- gnomAD 16-85903029-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.64
- CADD 24.40
- PolyPhen-2 0.71
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available