D12E (p.Asp12Glu) variant of BCL10 (B-cell lymphoma/leukemia 10)
D12E (p.Asp12Glu) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from ClinVar 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 0.43 / 1. The record also includes population frequency data.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- TOPMed rs1409773736
- gnomAD rs1409773736
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency 37)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)