E37Q (p.Glu37Gln) variant of TNFRSF13B (O14836)
E37Q (p.Glu37Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- rs752740455
- ClinGen CA8414112
- ClinVar RCV003855144
- ExAC rs752740455
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.38
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available