A4T (p.Ala4Thr) variant of AGT (Angiotensinogen)
A4T (p.Ala4Thr) in AGT (Angiotensinogen) 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 0.42 / 1. The record also includes published literature and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs1043140445
- ClinGen CA38872536
- ClinVar RCV004387051
- TOPMed rs1043140445
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.11
- MetaLR 0.35
- MetaSVM -0.57
- PolyPhen-2 0.62
- SIFT 0.02
- MutPred 0.31
- 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)