R8R (p.Arg8Arg) variant of AIRE (Autoimmune regulator)
R8R (p.Arg8Arg) in AIRE (Autoimmune regulator) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- rs2040477613
- gnomAD 21-44286030-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 7.74
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available