R58* (p.Arg58Ter) variant of BCL10 (B-cell lymphoma/leukemia 10)
R58* (p.Arg58Ter) in BCL10 (B-cell lymphoma/leukemia 10) 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 0.48 / 1. The record also includes population frequency data and published literature.
R58* (p.Arg58Ter) variant details
- p.Arg58Ter
- rs121918314
- ClinGen CA118079
- cosmic curated COSV65353
- ClinVar RCV000006644
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 0.88
- MetaLR 0.05
- MetaSVM -1.17
- CADD 37.00
- PolyPhen-2 0.90
- SIFT 0.00
- EBI: Pathogenic (in dbSNP:rs2100747931)
- UniProt: Pathogenic (in dbSNP:rs2100747931)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Lack of BCL10 mutations in germ cell tumors and B cell lymphomas. (PMID 10380920)
- Cited in: Lack of Bcl10 mutations in testicular germ cell tumours and derived cell lines. (PMID 10408400)