I46Y (p.Ile46Tyr) variant of BCL10 (B-cell lymphoma/leukemia 10)
I46Y (p.Ile46Tyr) in BCL10 (B-cell lymphoma/leukemia 10) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and published literature.
I46Y (p.Ile46Tyr) variant details
- p.Ile46Tyr
- rs387906351
- gnomAD 1-85270827-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 27.70
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Literature evidence available