T3P (p.Thr3Pro) variant of AIRE (Autoimmune regulator)
T3P (p.Thr3Pro) in AIRE (Autoimmune regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
T3P (p.Thr3Pro) variant details
- p.Thr3Pro
- rs2146374993
- ClinGen CA410422922
- ClinVar RCV002717510
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.05
- MetaLR 0.45
- MetaSVM -0.63
- PolyPhen-2 0.00
- SIFT 0.59
- EVE 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)