A5V (p.Ala5Val) variant of BCL10 (B-cell lymphoma/leukemia 10)
A5V (p.Ala5Val) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and published literature.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD 1-85276339-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available