Q78H (p.Gln78His) variant of AGT (Angiotensinogen)
Q78H (p.Gln78His) in AGT (Angiotensinogen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular dysgenesis of genetic origin; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q78H (p.Gln78His) variant details
- p.Gln78His
- rs770446406
- ClinGen CA1448345
- ClinVar RCV003240052
- ClinVar RCV004756502
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.20
- CADD 9.40
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)