S7Y (p.Ser7Tyr) variant of BCL10 (B-cell lymphoma/leukemia 10)
S7Y (p.Ser7Tyr) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
S7Y (p.Ser7Tyr) variant details
- p.Ser7Tyr
- TOPMed rs1268648553
- gnomAD rs1268648553
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.16
- MetaLR 0.03
- MetaSVM -1.06
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)