D71E (p.Asp71Glu) variant of IRF8 (Interferon regulatory factor 8)
D71E (p.Asp71Glu) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D71E (p.Asp71Glu) variant details
- p.Asp71Glu
- cosmic curated COSV51896
- ExAC rs749156548
- gnomAD rs749156548
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.77
- CADD 23.90
- PolyPhen-2 0.89
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available