D23G (p.Asp23Gly) variant of AIRE (Autoimmune regulator)
D23G (p.Asp23Gly) 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 0.71 / 1. The record also includes structural context.
D23G (p.Asp23Gly) variant details
- p.Asp23Gly
- rs2040478254
- ClinGen CA410423039
- ClinVar RCV001880876
- Ensembl rs2040478254
- Uncertain significance
- Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- AlphaMissense 0.28
- MetaLR 0.86
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.54
- ClinVar: Uncertain significance (Polyglandular autoimmune syndrome, type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available