I18T (p.Ile18Thr) variant of AIRE (Autoimmune regulator)
I18T (p.Ile18Thr) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
I18T (p.Ile18Thr) variant details
- p.Ile18Thr
- gnomAD 21-44286059-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.93
- MetaLR 0.92
- MetaSVM 1.01
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available