R4W (p.Arg4Trp) variant of IRF8 (Interferon regulatory factor 8)
R4W (p.Arg4Trp) 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 0.52 / 1. The record also includes population frequency data and structural context.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- rs1064796262
- ClinGen CA16620277
- ClinVar RCV000480436
- TOPMed rs1064796262
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.61
- CADD 24.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available