I18F (p.Ile18Phe) variant of AIRE (Autoimmune regulator)
I18F (p.Ile18Phe) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
I18F (p.Ile18Phe) variant details
- p.Ile18Phe
- TOPMed rs1237111503
- gnomAD rs1237111503
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.90
- MetaLR 0.92
- MetaSVM 1.01
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available