M1L (p.Met1Leu) variant of AIRE (Autoimmune regulator)
M1L (p.Met1Leu) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs121434258
- ClinGen CA116147
- ClinVar RCV000003478
- ClinVar RCV001091469
- Pathogenic
- not provided; Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- MetaLR 0.44
- MetaSVM -0.46
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.86
- ClinVar: Pathogenic (not provided; Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE… (PMID 16965330)