I46L (p.Ile46Leu) variant of BCL10 (B-cell lymphoma/leukemia 10)
I46L (p.Ile46Leu) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
I46L (p.Ile46Leu) variant details
- p.Ile46Leu
- gnomAD 1-85270828-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- MetaLR 0.09
- MetaSVM -1.06
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Literature evidence available