A19E (p.Ala19Glu) variant of AIRE (Autoimmune regulator)
A19E (p.Ala19Glu) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- TOPMed rs1456062309
- gnomAD rs1456062309
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.70
- MetaLR 0.91
- MetaSVM 0.99
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available