M1R (p.Met1Arg) variant of AIRE (Autoimmune regulator)
M1R (p.Met1Arg) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs2146374989
- ClinGen CA410422912
- ClinVar RCV002007164
- Pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- MetaLR 0.64
- MetaSVM -0.21
- PolyPhen-2 0.45
- SIFT 0.01
- MutPred 0.70
- ClinVar: Pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available