T3A (p.Thr3Ala) variant of AIRE (Autoimmune regulator)
T3A (p.Thr3Ala) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- Ensembl rs2146374993
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.12
- AlphaMissense 0.05
- MetaLR 0.45
- MetaSVM -0.63
- CADD 0.82
- PolyPhen-2 0.00
- Population evidence available
- Structural context available