Q71E (p.Gln71Glu) variant of STAT6 (P42226)
Q71E (p.Gln71Glu) in STAT6 (P42226) 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 0.33 / 1. The record also includes published literature and structural context.
Q71E (p.Gln71Glu) variant details
- p.Gln71Glu
- rs2034357748
- ClinGen CA385401830
- ClinVar RCV004465532
- Ensembl rs2034357748
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -1.02
- PolyPhen-2 0.79
- SIFT 0.12
- MutPred 0.57
- 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)