D4V (p.Asp4Val) variant of AIRE (Autoimmune regulator)
D4V (p.Asp4Val) 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; Polyglandular autoimmune syndrome, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
D4V (p.Asp4Val) variant details
- p.Asp4Val
- rs2146375006
- ClinGen CA410422932
- ClinVar RCV001902807
- ClinVar RCV005841870
- Uncertain significance
- Inborn genetic diseases; Polyglandular autoimmune syndrome, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.29
- MetaLR 0.84
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.43
- ClinVar: Uncertain significance (Inborn genetic diseases; Polyglandular autoimmune syndrome, type)
- 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)