A19V (p.Ala19Val) variant of AIRE (Autoimmune regulator)
A19V (p.Ala19Val) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- TOPMed rs1456062309
- gnomAD rs1456062309
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.73
- MetaLR 0.89
- MetaSVM 0.95
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available