R81S (p.Arg81Ser) variant of IRF8 (Interferon regulatory factor 8)
R81S (p.Arg81Ser) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R81S (p.Arg81Ser) variant details
- p.Arg81Ser
- gnomAD 16-85909058-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.89
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available