M111T (p.Met111Thr) variant of AGT (Angiotensinogen)
M111T (p.Met111Thr) in AGT (Angiotensinogen) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
M111T (p.Met111Thr) variant details
- p.Met111Thr
- rs1663548602
- ClinGen CA345206858
- ClinVar RCV002818343
- gnomAD rs1663548602
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.17
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-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)