A21V (p.Ala21Val) variant of AIRE (Autoimmune regulator)
A21V (p.Ala21Val) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs179363886
- ClinGen CA199074
- ClinVar RCV000059062
- ClinVar RCV000169178
- Pathogenic
- not provided; Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.87
- MetaLR 0.93
- MetaSVM 1.04
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune… (PMID 12050215)
- Cited in: APECED-causing mutations in AIRE reveal the functional domains of the protein. (PMID 14974083)