R58G (p.Arg58Gly) variant of BCL10 (B-cell lymphoma/leukemia 10)
R58G (p.Arg58Gly) 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 MALE GERM CELL TUMOR, SOMATIC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature.
R58G (p.Arg58Gly) variant details
- p.Arg58Gly
- rs121918314
- ClinGen CA118077
- ClinVar RCV000006643
- UniProt VAR 013214
- Pathogenic
- MALE GERM CELL TUMOR, SOMATIC
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.88
- MetaLR 0.05
- MetaSVM -1.17
- PolyPhen-2 0.90
- SIFT 0.00
- EVE 0.39
- ClinVar: Pathogenic (MALE GERM CELL TUMOR, SOMATIC)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types. (PMID 9989495)