D12A (p.Asp12Ala) variant of BCL10 (B-cell lymphoma/leukemia 10)
D12A (p.Asp12Ala) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
D12A (p.Asp12Ala) variant details
- p.Asp12Ala
- gnomAD 1-85276318-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 25.90
- PolyPhen-2 0.29
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available