C2* (p.Cys2Ter) variant of TNFRSF4 (P43489)
C2* (p.Cys2Ter) in TNFRSF4 (P43489) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
C2* (p.Cys2Ter) variant details
- p.Cys2Ter
- 1000Genomes rs202161001
- ExAC rs202161001
- TOPMed rs202161001
- gnomAD rs202161001
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 26.90
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)