E32D (p.Glu32Asp) variant of IRF8 (Interferon regulatory factor 8)
E32D (p.Glu32Asp) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E32D (p.Glu32Asp) variant details
- p.Glu32Asp
- NCI-TCGA Cosmic COSV5189
- cosmic curated COSV51897
- NCI-TCGA Cosmic COSV5190
- ExAC rs747326308
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.39
- CADD 21.00
- PolyPhen-2 0.05
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available