R9W (p.Arg9Trp) variant of AIRE (Autoimmune regulator)
R9W (p.Arg9Trp) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs1942959342
- ClinGen CA410422957
- ClinVar RCV001267736
- Ensembl rs1942959342
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.48
- MetaLR 0.74
- MetaSVM 0.41
- CADD 23.30
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available