A54S (p.Ala54Ser) variant of IRF8 (Interferon regulatory factor 8)
A54S (p.Ala54Ser) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A54S (p.Ala54Ser) variant details
- p.Ala54Ser
- TOPMed rs1329459790
- gnomAD rs1329459790
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.84
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available