R58Q (p.Arg58Gln) variant of BCL10 (B-cell lymphoma/leukemia 10)
R58Q (p.Arg58Gln) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from ClinVar and UniProt describe it as likely oncogenic in the context of Neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
R58Q (p.Arg58Gln) variant details
- p.Arg58Gln
- rs2100747931
- cosmic curated COSV65354
- UniProt VAR 013215
- Ensembl rs2100747931
- Likely oncogenic
- Neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- MetaLR 0.01
- MetaSVM -1.06
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.31
- ClinVar: Likely oncogenic (Neoplasm)
- UniProt: Likely oncogenic (in dbSNP:rs2100747931)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Absence of BCL10 mutations in human malignant mesothelioma. (PMID 10380921)