T163M (p.Thr163Met) variant of BCL10 (B-cell lymphoma/leukemia 10)
T163M (p.Thr163Met) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Malignant tumor of testis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T163M (p.Thr163Met) variant details
- p.Thr163Met
- rs370432633
- ClinGen CA129156
- cosmic curated COSV65354
- ClinVar RCV000023309
- Pathogenic
- Malignant tumor of testis
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.02
- ClinVar: Pathogenic (Malignant tumor of testis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available
- Cited in: Point mutations and deletions of the Bcl10 gene in solid tumors and malignant lymphomas. (PMID 10582682)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)