Q95E (p.Gln95Glu) variant of TNFRSF13B (O14836)
Q95E (p.Gln95Glu) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
Q95E (p.Gln95Glu) variant details
- p.Gln95Glu
- rs549493928
- ClinGen CA8414053
- ClinVar RCV001365796
- ClinVar RCV002476669
- Uncertain significance
- Immunodeficiency, common variable, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.43
- CADD 22.70
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)