D3E (p.Asp3Glu) variant of IRF8 (Interferon regulatory factor 8)
D3E (p.Asp3Glu) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- rs886039596
- ClinGen CA10588628
- ClinVar RCV000255394
- Ensembl rs886039596
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.28
- MetaLR 0.82
- MetaSVM 0.45
- PolyPhen-2 0.71
- SIFT 0.18
- MutPred 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available