A5L (p.Ala5Leu) variant of AIRE (Autoimmune regulator)
A5L (p.Ala5Leu) 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 record also includes structural context.
A5L (p.Ala5Leu) variant details
- p.Ala5Leu
- rs2146375021
- ClinGen CA2573157672
- ClinVar RCV001920433
- Ensembl rs2146375021
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available