S7C (p.Ser7Cys) variant of BCL10 (B-cell lymphoma/leukemia 10)
S7C (p.Ser7Cys) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 37. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
S7C (p.Ser7Cys) variant details
- p.Ser7Cys
- rs1268648553
- ClinGen CA340952917
- ClinVar RCV003044110
- TOPMed rs1268648553
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.16
- MetaLR 0.03
- MetaSVM -1.06
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)