T16K (p.Thr16Lys) variant of AIRE (Autoimmune regulator)
T16K (p.Thr16Lys) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
T16K (p.Thr16Lys) variant details
- p.Thr16Lys
- gnomAD 21-44286053-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.85
- MetaLR 0.87
- MetaSVM 0.91
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available