R42C (p.Arg42Cys) variant of BCL10 (B-cell lymphoma/leukemia 10)
R42C (p.Arg42Cys) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R42C (p.Arg42Cys) variant details
- p.Arg42Cys
- NCI-TCGA Cosmic COSV6535
- cosmic curated COSV65353
- Ensembl rs2100748058
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- MetaLR 0.13
- MetaSVM -0.99
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available