R9G (p.Arg9Gly) variant of AIRE (Autoimmune regulator)
R9G (p.Arg9Gly) in AIRE (Autoimmune regulator) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD 21-44286016-G-GAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 22.40
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available