A25D (p.Ala25Asp) variant of AIRE (Autoimmune regulator)
A25D (p.Ala25Asp) in AIRE (Autoimmune regulator) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A25D (p.Ala25Asp) variant details
- p.Ala25Asp
- TOPMed rs1398217393
- gnomAD rs1398217393
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.61
- MetaLR 0.83
- MetaSVM 0.67
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available