R9Q (p.Arg9Gln) variant of AIRE (Autoimmune regulator)
R9Q (p.Arg9Gln) in AIRE (Autoimmune regulator) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- Ensembl rs1057517878
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.26
- AlphaMissense 0.10
- MetaLR 0.49
- MetaSVM -0.61
- CADD 9.08
- PolyPhen-2 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available