V80G (p.Val80Gly) variant of AIRE (Autoimmune regulator)
V80G (p.Val80Gly) 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 0.73 / 1. The record also includes published literature and structural context.
V80G (p.Val80Gly) variant details
- p.Val80Gly
- rs267606642
- ClinGen CA116151
- ClinVar RCV000003481
- Ensembl rs267606642
- Pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.58
- MetaLR 0.80
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Pathogenic (in APS1)
- UniProt: Pathogenic (in APS1)
- Structural context available
- Cited in: Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians. (PMID 19807739)