L81P (p.Leu81Pro) variant of AIRE (Autoimmune regulator)
L81P (p.Leu81Pro) 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 0.79 / 1. The record also includes population frequency data and structural context.
L81P (p.Leu81Pro) variant details
- p.Leu81Pro
- rs770027594
- ClinGen CA10051501
- ClinVar RCV003329568
- ExAC rs770027594
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.85
- MetaLR 0.93
- MetaSVM 1.05
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available