D12G (p.Asp12Gly) variant of BCL10 (B-cell lymphoma/leukemia 10)
D12G (p.Asp12Gly) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- gnomAD 1-85276318-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 26.70
- PolyPhen-2 0.43
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available