Q44P (p.Gln44Pro) variant of AIRE (Autoimmune regulator)
Q44P (p.Gln44Pro) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
Q44P (p.Gln44Pro) variant details
- p.Gln44Pro
- rs2040479235
- ClinGen CA410423177
- ClinVar RCV003329567
- Ensembl rs2040479235
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.52
- MetaLR 0.85
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.20
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available