L97P (p.Leu97Pro) variant of AIRE (Autoimmune regulator)
L97P (p.Leu97Pro) 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 0.55 / 1. The record also includes population frequency data and structural context.
L97P (p.Leu97Pro) variant details
- p.Leu97Pro
- rs2146375951
- ClinGen CA410423523
- ClinVar RCV002017393
- Ensembl rs2146375951
- Likely pathogenic
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.62
- MetaLR 0.82
- MetaSVM 0.18
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Likely pathogenic (Polyglandular autoimmune syndrome, type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available