T3M (p.Thr3Met) variant of AIRE (Autoimmune regulator)
T3M (p.Thr3Met) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T3M (p.Thr3Met) variant details
- p.Thr3Met
- TOPMed rs1313064637
- gnomAD rs1313064637
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.14
- MetaLR 0.48
- MetaSVM -0.49
- CADD 8.63
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available