R52T (p.Arg52Thr) variant of TNFAIP3 (P21580)
R52T (p.Arg52Thr) in TNFAIP3 (P21580) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
R52T (p.Arg52Thr) variant details
- p.Arg52Thr
- rs2482708655
- ClinGen CA365780511
- ClinVar RCV002935974
- Uncertain significance
- Missense
- 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)