C57Y (p.Cys57Tyr) variant of BCL10 (B-cell lymphoma/leukemia 10)
C57Y (p.Cys57Tyr) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
C57Y (p.Cys57Tyr) variant details
- p.Cys57Tyr
- gnomAD 1-85270794-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- MetaLR 0.08
- MetaSVM -1.14
- CADD 25.20
- PolyPhen-2 0.93
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available