E10A (p.Glu10Ala) variant of BCL10 (B-cell lymphoma/leukemia 10)
E10A (p.Glu10Ala) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
E10A (p.Glu10Ala) variant details
- p.Glu10Ala
- cosmic curated COSV65353
- TOPMed rs944883661
- gnomAD rs944883661
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 24.80
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)