R51* (p.Arg51Ter) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
R51* (p.Arg51Ter) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R51* (p.Arg51Ter) variant details
- p.Arg51Ter
- rs606231417
- ClinGen CA173992
- cosmic curated COSV10588
- ClinVar RCV000148290
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. (PMID 25213377)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)