R87Q (p.Arg87Gln) variant of BCL10 (B-cell lymphoma/leukemia 10)
R87Q (p.Arg87Gln) 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 0.61 / 1. The record also includes population frequency data and structural context.
R87Q (p.Arg87Gln) variant details
- p.Arg87Gln
- rs187744101
- ClinGen CA929792
- cosmic curated COSV65353
- ClinVar RCV001299878
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- MetaLR 0.10
- MetaSVM -1.11
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.35
- ClinVar: Uncertain significance (Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available