E10K (p.Glu10Lys) variant of BCL10 (B-cell lymphoma/leukemia 10)
E10K (p.Glu10Lys) 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 0.64 / 1. The record also includes population frequency data.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs1403156514
- ClinGen CA340952902
- ClinVar RCV001970460
- TOPMed rs1403156514
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)