A5T (p.Ala5Thr) variant of BCL10 (B-cell lymphoma/leukemia 10)
A5T (p.Ala5Thr) 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.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD 1-85276340-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 3e-05)
- Literature evidence available