G51R (p.Gly51Arg) variant of AGT (Angiotensinogen)
G51R (p.Gly51Arg) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G51R (p.Gly51Arg) variant details
- p.Gly51Arg
- rs745516271
- ClinGen CA1448364
- ClinVar RCV002687648
- ExAC rs745516271
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.14
- CADD 13.60
- PolyPhen-2 0.09
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 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)