S61G (p.Ser61Gly) variant of BCL10 (B-cell lymphoma/leukemia 10)
S61G (p.Ser61Gly) 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 0.52 / 1. The record also includes population frequency data.
S61G (p.Ser61Gly) variant details
- p.Ser61Gly
- rs542952039
- ClinGen CA929795
- ClinVar RCV000699388
- 1000Genomes rs542952039
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- MetaLR 0.16
- MetaSVM -0.89
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.06
- ClinVar: Uncertain significance (Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)