I18V (p.Ile18Val) variant of AIRE (Autoimmune regulator)
I18V (p.Ile18Val) in AIRE (Autoimmune regulator) 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 and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- TOPMed rs1237111503
- gnomAD rs1237111503
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.71
- MetaLR 0.91
- MetaSVM 0.97
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available