R12G (p.Arg12Gly) variant of AIRE (Autoimmune regulator)
R12G (p.Arg12Gly) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- rs1131691636
- ClinGen CA410422971
- ClinVar RCV000493760
- Ensembl rs1131691636
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.76
- MetaLR 0.80
- MetaSVM 0.56
- CADD 26.70
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available