R8G (p.Arg8Gly) variant of AIRE (Autoimmune regulator)
R8G (p.Arg8Gly) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- gnomAD 21-44286028-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.72
- MetaLR 0.87
- MetaSVM 0.90
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available