L87P (p.Leu87Pro) variant of AIRE (Autoimmune regulator)
L87P (p.Leu87Pro) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
L87P (p.Leu87Pro) variant details
- p.Leu87Pro
- rs2040485564
- ClinGen CA410423465
- ClinVar RCV001248832
- Ensembl rs2040485564
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 0.88
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available