A33G (p.Ala33Gly) variant of AIRE (Autoimmune regulator)
A33G (p.Ala33Gly) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
A33G (p.Ala33Gly) variant details
- p.Ala33Gly
- gnomAD rs1256655851
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.71
- MetaLR 0.86
- MetaSVM 0.78
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available