A33T (p.Ala33Thr) variant of AIRE (Autoimmune regulator)
A33T (p.Ala33Thr) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- ExAC rs755314503
- gnomAD rs755314503
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.69
- MetaLR 0.87
- MetaSVM 0.90
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available