A25P (p.Ala25Pro) variant of AIRE (Autoimmune regulator)
A25P (p.Ala25Pro) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- rs761025044
- ClinGen CA10051464
- ClinVar RCV001245440
- ExAC rs761025044
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.51
- MetaLR 0.78
- MetaSVM 0.44
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.25
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available