R88Q (p.Arg88Gln) variant of BCL10 (B-cell lymphoma/leukemia 10)
R88Q (p.Arg88Gln) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 37. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R88Q (p.Arg88Gln) variant details
- p.Arg88Gln
- rs147850504
- ClinGen CA929790
- cosmic curated COSV65353
- ClinVar RCV001219468
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- MetaLR 0.04
- MetaSVM -1.12
- CADD 24.10
- PolyPhen-2 0.94
- SIFT 0.24
- ClinVar: Uncertain significance (Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available