Q97E (p.Gln97Glu) variant of BCL10 (B-cell lymphoma/leukemia 10)
Q97E (p.Gln97Glu) 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 0.54 / 1. The record also includes population frequency data and structural context.
Q97E (p.Gln97Glu) variant details
- p.Gln97Glu
- rs150019339
- ClinGen CA929783
- ClinVar RCV001204862
- 1000Genomes rs150019339
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- MetaLR 0.02
- MetaSVM -1.06
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available