S7F (p.Ser7Phe) variant of BCL10 (B-cell lymphoma/leukemia 10)
S7F (p.Ser7Phe) 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 0.30 / 1. The record also includes population frequency data.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- rs1268648553
- TOPMed rs1268648553
- gnomAD rs1268648553
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- AlphaMissense 0.16
- MetaLR 0.03
- MetaSVM -1.06
- PolyPhen-2 0.02
- SIFT 0.01
- MutPred 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available