C35* (p.Cys35Ter) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
C35* (p.Cys35Ter) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
C35* (p.Cys35Ter) variant details
- p.Cys35Ter
- rs606231420
- ClinGen CA173996
- ClinVar RCV000148293
- Ensembl rs606231420
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. (PMID 25329329)