T16T (p.Thr16Thr) variant of AIRE (Autoimmune regulator)
T16T (p.Thr16Thr) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T16T (p.Thr16Thr) variant details
- p.Thr16Thr
- rs2146375080
- gnomAD 21-44286054-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.26
- Most common in the Middle Eastern population (allele frequency 0.00037)
- Structural context available
- Literature evidence available