S56A (p.Ser56Ala) variant of BCL10 (B-cell lymphoma/leukemia 10)
S56A (p.Ser56Ala) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
S56A (p.Ser56Ala) variant details
- p.Ser56Ala
- gnomAD 1-85270798-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- MetaLR 0.05
- MetaSVM -1.10
- CADD 23.90
- PolyPhen-2 0.85
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available