A59S (p.Ala59Ser) variant of IRF8 (Interferon regulatory factor 8)
A59S (p.Ala59Ser) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- gnomAD rs1474894975
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.85
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available